#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
CROCC	9696	broad.mit.edu	37	1	17281847	17281847	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr1:17281847C>T	ENST00000375541.5	+	24	3575	c.3506C>T	c.(3505-3507)gCc>gTc	p.A1169V		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTGGAGGATGCCCGTGACGGG	0.711																																						uc001azt.2																			0				ovary(2)|breast(2)|central_nervous_system(1)	5						c.(3505-3507)GCC>GTC		ciliary rootlet coiled-coil							18.0	22.0	21.0					1																	17281847		2180	4287	6467	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17281847C>T	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.3506C>T	1.37:g.17281847C>T	ENSP00000364691:p.Ala1169Val					CROCC_uc001azu.2_Missense_Mutation_p.A472V	p.A1169V	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	24	3575	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	1169			Potential.			Missense_Mutation	SNP	ENST00000375541.5	37	c.3506C>T	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679227	0.29783	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.57436	0.4	4.31	4.31	0.51392	.	.	.	.	.	T	0.46964	0.1420	L	0.48642	1.525	0.21325	N	0.99972	P;P	0.38827	0.51;0.649	B;B	0.36666	0.23;0.23	T	0.39099	-0.9630	9	0.32370	T	0.25	.	15.0938	0.72217	0.0:1.0:0.0:0.0	.	472;1169	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	V	1169;1050	ENSP00000364691:A1169V	ENSP00000364691:A1169V	A	+	2	0	CROCC	17154434	0.184000	0.23200	0.124000	0.21820	0.018000	0.09664	1.845000	0.39279	2.343000	0.79666	0.561000	0.74099	GCC		0.711	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675	
GLIS1	148979	broad.mit.edu	37	1	54060541	54060541	+	Missense_Mutation	SNP	C	C	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr1:54060541C>A	ENST00000312233.2	-	3	601	c.35G>T	c.(34-36)tGt>tTt	p.C12F		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CGGGCCCCGACAGTGGGCAGA	0.657																																						uc001cvr.1																			0				skin(1)	1						c.(34-36)TGT>TTT		GLIS family zinc finger 1							10.0	14.0	13.0					1																	54060541		2089	4091	6180	SO:0001583	missense	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:54060541C>A	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.35G>T	1.37:g.54060541C>A	ENSP00000309653:p.Cys12Phe						p.C12F	NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN			3	602	-			12						Missense_Mutation	SNP	ENST00000312233.2	37	c.35G>T	CCDS582.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274014	0.59649	.	.	ENSG00000174332	ENST00000312233	T	0.09817	2.94	4.53	4.53	0.55603	.	0.319207	0.27249	N	0.020239	T	0.16428	0.0395	L	0.29908	0.895	0.40596	D	0.981532	D	0.61080	0.989	P	0.53809	0.735	T	0.01688	-1.1295	10	0.87932	D	0	.	15.932	0.79668	0.0:1.0:0.0:0.0	.	12	Q8NBF1	GLIS1_HUMAN	F	12	ENSP00000309653:C12F	ENSP00000309653:C12F	C	-	2	0	GLIS1	53833129	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	3.133000	0.50531	2.456000	0.83038	0.563000	0.77884	TGT		0.657	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193	
RSBN1	54665	broad.mit.edu	37	1	114354435	114354435	+	Silent	SNP	G	G	C			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr1:114354435G>C	ENST00000261441.5	-	1	663	c.600C>G	c.(598-600)ccC>ccG	p.P200P	RP5-1073O3.2_ENST00000418238.1_RNA|RP5-1073O3.2_ENST00000429398.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	200						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATCACCATCGGGGCCGCGGT	0.637																																						uc001edq.2																			0				ovary(1)	1						c.(598-600)CCC>CCG		round spermatid basic protein 1							85.0	73.0	77.0					1																	114354435		2203	4300	6503	SO:0001819	synonymous_variant	54665					nucleus		g.chr1:114354435G>C	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.600C>G	1.37:g.114354435G>C						RSBN1_uc001edr.2_RNA	p.P200P	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	636	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	200					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	c.600C>G	CCDS862.1																																																																																				0.637	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364	
F5	2153	broad.mit.edu	37	1	169510453	169510453	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr1:169510453G>A	ENST00000367797.3	-	13	4076	c.3875C>T	c.(3874-3876)aCa>aTa	p.T1292I	F5_ENST00000367796.3_Missense_Mutation_p.T1297I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1292	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AGAGAGGTTTGTCTGGCTGAA	0.522																																						uc001ggg.1																			0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(3874-3876)ACA>ATA		coagulation factor V precursor	Drotrecogin alfa(DB00055)						231.0	258.0	249.0					1																	169510453		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510453G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3875C>T	1.37:g.169510453G>A	ENSP00000356771:p.Thr1292Ile						p.T1292I	NM_000130	NP_000121	P12259	FA5_HUMAN			13	4020	-	all_hematologic(923;0.208)		1292			2-12.|B.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3875C>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	8.159	0.789202	0.16258	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.34859	1.34;1.34	5.07	-1.44	0.08856	.	2.147630	0.01782	N	0.031831	T	0.12347	0.0300	L	0.59436	1.845	0.19300	N	0.999979	B	0.18013	0.025	B	0.10450	0.005	T	0.08764	-1.0706	9	0.25106	T	0.35	.	3.5564	0.07866	0.2885:0.0:0.2785:0.433	.	1292	P12259	FA5_HUMAN	I	1292;1297	ENSP00000356771:T1292I;ENSP00000356770:T1297I	ENSP00000356770:T1297I	T	-	2	0	F5	167777077	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.266000	0.00136	-0.486000	0.06744	0.561000	0.74099	ACA		0.522	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
OR2T10	127069	broad.mit.edu	37	1	248756796	248756796	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr1:248756796T>C	ENST00000330500.2	-	1	304	c.274A>G	c.(274-276)Atc>Gtc	p.I92V	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	92						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)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGACCGAGATGGTCTTGTCT	0.507																																						uc010pzn.1																			0				skin(1)	1						c.(274-276)ATC>GTC		olfactory receptor, family 2, subfamily T,							66.0	76.0	73.0					1																	248756796		2040	4235	6275	SO:0001583	missense	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248756796T>C		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.274A>G	1.37:g.248756796T>C	ENSP00000329210:p.Ile92Val						p.I92V	NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	274	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		92			Extracellular (Potential).		B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	c.274A>G	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	5.263	0.234039	0.09969	.	.	ENSG00000184022	ENST00000330500	T	0.02606	4.23	2.34	2.34	0.29019	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.05090	0.0136	M	0.77313	2.365	0.20764	N	0.999856	P	0.44195	0.828	B	0.37480	0.251	T	0.28138	-1.0053	9	0.66056	D	0.02	.	9.0902	0.36605	0.0:0.0:0.0:1.0	.	92	Q8NGZ9	O2T10_HUMAN	V	92	ENSP00000329210:I92V	ENSP00000329210:I92V	I	-	1	0	OR2T10	246823419	0.563000	0.26594	0.013000	0.15412	0.096000	0.18686	1.040000	0.30278	0.923000	0.37045	0.362000	0.22060	ATC		0.507	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693	
ST8SIA6	338596	broad.mit.edu	37	10	17363244	17363244	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr10:17363244G>A	ENST00000377602.4	-	8	904	c.830C>T	c.(829-831)aCg>aTg	p.T277M		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	277					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AGAGGTACCCGTGTTGGCCCT	0.418																																						uc001ipd.2																			0				ovary(1)	1						c.(829-831)ACG>ATG		ST8 alpha-N-acetyl-neuraminide							100.0	109.0	106.0					10																	17363244		2203	4300	6503	SO:0001583	missense	338596				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr10:17363244G>A		CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.830C>T	10.37:g.17363244G>A	ENSP00000366827:p.Thr277Met					ST8SIA6_uc010qce.1_RNA	p.T277M	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN			8	830	-			277			Lumenal (Potential).		B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	c.830C>T	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419302	0.62622	.	.	ENSG00000148488	ENST00000377610;ENST00000377602	T	0.32753	1.44	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.59376	0.2189	M	0.77486	2.375	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.60806	-0.7190	10	0.59425	D	0.04	-0.2145	19.2559	0.93945	0.0:0.0:1.0:0.0	.	277	P61647	SIA8F_HUMAN	M	107;277	ENSP00000366827:T277M	ENSP00000366827:T277M	T	-	2	0	ST8SIA6	17403250	1.000000	0.71417	0.969000	0.41365	0.551000	0.35334	7.807000	0.86032	2.861000	0.98227	0.650000	0.86243	ACG		0.418	ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470	
OR10A3	26496	broad.mit.edu	37	11	7960683	7960683	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr11:7960683G>A	ENST00000360759.3	-	1	458	c.385C>T	c.(385-387)Cct>Tct	p.P129S		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	129					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)			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAGTTCAGAGGATGGCAAATT	0.438																																						uc010rbi.1																			0				pancreas(1)	1						c.(385-387)CCT>TCT		olfactory receptor, family 10, subfamily A,							66.0	62.0	63.0					11																	7960683		2201	4296	6497	SO:0001583	missense	26496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7960683G>A	BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"""GPCR / Class A : Olfactory receptors"""	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.385C>T	11.37:g.7960683G>A	ENSP00000353988:p.Pro129Ser						p.P129S	NM_001003745	NP_001003745	P58181	O10A3_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	385	-			129			Cytoplasmic (Potential).		B9EH39|Q6IF58|Q96R11	Missense_Mutation	SNP	ENST00000360759.3	37	c.385C>T	CCDS31421.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386615	0.82902	.	.	ENSG00000170683	ENST00000360759	T	0.01838	4.61	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40728	U	0.001038	T	0.21347	0.0514	H	0.96365	3.81	0.43793	D	0.99633	D	0.89917	1.0	D	0.87578	0.998	T	0.11966	-1.0566	10	0.87932	D	0	.	16.0778	0.80979	0.0:0.0:1.0:0.0	.	129	P58181	O10A3_HUMAN	S	129	ENSP00000353988:P129S	ENSP00000353988:P129S	P	-	1	0	OR10A3	7917259	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.526000	0.98042	2.742000	0.94016	0.650000	0.86243	CCT		0.438	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745	
ELP4	26610	broad.mit.edu	37	11	31531364	31531364	+	Silent	SNP	C	C	G			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr11:31531364C>G	ENST00000350638.5	+	1	68	c.33C>G	c.(31-33)gcC>gcG	p.A11A	ELP4_ENST00000395934.2_Silent_p.A11A|IMMP1L_ENST00000526776.1_5'Flank|IMMP1L_ENST00000533642.1_5'Flank|IMMP1L_ENST00000278200.1_5'Flank|ELP4_ENST00000379163.5_Silent_p.A11A|IMMP1L_ENST00000532287.1_5'Flank|IMMP1L_ENST00000528161.1_5'Flank|IMMP1L_ENST00000534812.1_5'Flank	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	11					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GTAGTGTTGCCGCGAGTACTG	0.587																																						uc001mtb.2																			0				upper_aerodigestive_tract(1)|ovary(1)|prostate(1)	3						c.(31-33)GCC>GCG		elongation protein 4 homolog							41.0	46.0	45.0					11																	31531364		2101	4237	6338	SO:0001819	synonymous_variant	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31531364C>G	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.33C>G	11.37:g.31531364C>G						IMMP1L_uc001msy.1_5'Flank|IMMP1L_uc001msz.1_5'Flank|ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Silent_p.A11A|ELP4_uc010rdz.1_Silent_p.A11A|IMMP1L_uc009yjo.2_5'Flank|IMMP1L_uc009yjp.2_5'Flank	p.A11A	NM_019040	NP_061913	Q96EB1	ELP4_HUMAN			1	68	+	Lung SC(675;0.225)		11					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Silent	SNP	ENST00000350638.5	37	c.33C>G	CCDS7875.2																																																																																				0.587	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040	
KAT5	10524	broad.mit.edu	37	11	65486084	65486084	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr11:65486084G>A	ENST00000377046.3	+	12	1461	c.1189G>A	c.(1189-1191)Ggg>Agg	p.G397R	KAT5_ENST00000341318.4_Missense_Mutation_p.G430R|KAT5_ENST00000534650.1_Missense_Mutation_p.G186R|KAT5_ENST00000352980.4_Missense_Mutation_p.G345R|RNASEH2C_ENST00000308418.4_3'UTR|KAT5_ENST00000530446.1_Missense_Mutation_p.G378R	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	397	Interaction with ATF2.|MYST-type HAT.				androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CAAAGTGGAAGGGAAAACAGG	0.502																																						uc001ofi.2																			0					0						c.(1189-1191)GGG>AGG		K(lysine) acetyltransferase 5 isoform 2							106.0	120.0	115.0					11																	65486084		2201	4297	6498	SO:0001583	missense	10524				androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	g.chr11:65486084G>A	U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.1189G>A	11.37:g.65486084G>A	ENSP00000366245:p.Gly397Arg					KAT5_uc001ofj.2_Missense_Mutation_p.G345R|KAT5_uc001ofk.2_Missense_Mutation_p.G430R|KAT5_uc010roo.1_Missense_Mutation_p.G378R|KAT5_uc001ofl.2_Missense_Mutation_p.G186R|RNASEH2C_uc001ofm.2_RNA|RNASEH2C_uc001ofn.2_3'UTR	p.G397R	NM_006388	NP_006379	Q92993	KAT5_HUMAN			12	1439	+			397					B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	ENST00000377046.3	37	c.1189G>A	CCDS31610.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737964	0.89573	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000534650	T;T;T;T	0.50001	0.78;0.8;0.76;0.79	4.96	4.96	0.65561	Acyl-CoA N-acyltransferase (2);MOZ/SAS-like protein (1);	0.052616	0.85682	D	0.000000	T	0.66446	0.2790	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.69078	0.996;0.997;0.996;0.982	D;D;D;P	0.75020	0.985;0.945;0.974;0.849	T	0.68977	-0.5267	10	0.66056	D	0.02	-25.6539	15.744	0.77922	0.0:0.0:1.0:0.0	.	378;430;345;397	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	R	397;345;430;378;186	ENSP00000366245:G397R;ENSP00000344955:G345R;ENSP00000340330:G430R;ENSP00000434765:G378R	ENSP00000340330:G430R	G	+	1	0	KAT5	65242660	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.576000	0.82467	2.590000	0.87494	0.561000	0.74099	GGG		0.502	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388	
KRT75	9119	broad.mit.edu	37	12	52824357	52824357	+	Missense_Mutation	SNP	G	G	A	rs2232397	byFrequency	TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr12:52824357G>A	ENST00000252245.5	-	5	1223	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	335	Coil 2.|Rod.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GCCTCGGCCCGGCTGCGGTTG	0.547													G|||	5	0.000998403	0.0038	0.0	5008	,	,		19957	0.0		0.0	False		,,,				2504	0.0					uc001saj.2																			0					0						c.(1003-1005)CGG>TGG		keratin 75		G	TRP/ARG	10,4396	17.9+/-39.9	0,10,2193	181.0	162.0	168.0		1003	3.8	1.0	12	dbSNP_98	168	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KRT75	NM_004693.2	101	0,11,6492	AA,AG,GG		0.0116,0.227,0.0846	probably-damaging	335/552	52824357	11,12995	2203	4300	6503	SO:0001583	missense	9119					keratin filament	structural molecule activity	g.chr12:52824357G>A	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.1003C>T	12.37:g.52824357G>A	ENSP00000252245:p.Arg335Trp						p.R335W	NM_004693	NP_004684	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	5	1025	-			335			Coil 2.|Rod.		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	c.1003C>T	CCDS8827.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	20.6	4.012354	0.75046	0.00227	1.16E-4	ENSG00000170454	ENST00000252245	D	0.90197	-2.63	5.73	3.82	0.43975	Prefoldin (1);Filament (1);	0.130078	0.34156	N	0.004210	D	0.95373	0.8498	M	0.85777	2.775	0.34179	D	0.67075	D	0.89917	1.0	D	0.91635	0.999	D	0.98145	1.0438	10	0.87932	D	0	.	14.195	0.65664	0.0:0.0:0.6101:0.3899	rs2232397	335	O95678	K2C75_HUMAN	W	335	ENSP00000252245:R335W	ENSP00000252245:R335W	R	-	1	2	KRT75	51110624	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.830000	0.39131	0.698000	0.31739	0.655000	0.94253	CGG		0.547	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693	
ACTR6	64431	broad.mit.edu	37	12	100601474	100601474	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr12:100601474G>A	ENST00000188312.2	+	4	1054	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	ACTR6_ENST00000546902.1_Missense_Mutation_p.E15K|ACTR6_ENST00000552376.1_Missense_Mutation_p.E97K|ACTR6_ENST00000551617.1_Missense_Mutation_p.E15K	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	97						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						TATTATCACTGAACCATACTT	0.259																																						uc001thb.1																			0				ovary(1)	1						c.(289-291)GAA>AAA		ARP6 actin-related protein 6 homolog							42.0	46.0	45.0					12																	100601474		2193	4281	6474	SO:0001583	missense	64431					cytoplasm|cytoskeleton		g.chr12:100601474G>A	AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.289G>A	12.37:g.100601474G>A	ENSP00000188312:p.Glu97Lys					ACTR6_uc010svh.1_Missense_Mutation_p.E97K|ACTR6_uc001thc.1_5'UTR|ACTR6_uc001thd.1_Missense_Mutation_p.E97K|ACTR6_uc009ztu.1_5'UTR|ACTR6_uc001the.1_Missense_Mutation_p.E15K|ACTR6_uc001thf.1_Missense_Mutation_p.E15K|uc001thg.1_Intron	p.E97K	NM_022496	NP_071941	Q9GZN1	ARP6_HUMAN			4	345	+			97					B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Missense_Mutation	SNP	ENST00000188312.2	37	c.289G>A	CCDS9074.1	.	.	.	.	.	.	.	.	.	.	G	35	5.512914	0.96402	.	.	ENSG00000075089	ENST00000551652;ENST00000188312;ENST00000546902;ENST00000552376;ENST00000551617	D;D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18;-4.18	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.98692	0.9561	M	0.93808	3.46	0.80722	D	1	D;D;D;D	0.89917	0.993;1.0;1.0;1.0	D;D;D;D	0.74674	0.976;0.981;0.973;0.984	D	0.99327	1.0908	10	0.87932	D	0	.	19.8737	0.96861	0.0:0.0:1.0:0.0	.	97;15;97;97	B4DLG9;F8VSD1;F8W057;Q9GZN1	.;.;.;ARP6_HUMAN	K	109;97;15;97;15	ENSP00000448508:E109K;ENSP00000188312:E97K;ENSP00000448669:E15K;ENSP00000447237:E97K;ENSP00000448356:E15K	ENSP00000188312:E97K	E	+	1	0	ACTR6	99125605	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.296000	0.96104	2.693000	0.91896	0.650000	0.86243	GAA		0.259	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408159.1	NM_022496	
SYCP3	50511	broad.mit.edu	37	12	102128812	102128812	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr12:102128812G>T	ENST00000392927.3	-	5	377	c.246C>A	c.(244-246)aaC>aaA	p.N82K	SYCP3_ENST00000392924.1_Missense_Mutation_p.N82K|SYCP3_ENST00000266743.2_Missense_Mutation_p.N82K	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	82					male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						GAAGAGCCTTGTTAATGTCAA	0.308																																						uc001tiq.2																			0					0						c.(244-246)AAC>AAA		synaptonemal complex protein 3							71.0	71.0	71.0					12																	102128812		2201	4298	6499	SO:0001583	missense	50511				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding	g.chr12:102128812G>T	AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.246C>A	12.37:g.102128812G>T	ENSP00000376658:p.Asn82Lys					SYCP3_uc001tir.2_Missense_Mutation_p.N82K|SYCP3_uc001tis.2_Missense_Mutation_p.N82K	p.N82K	NM_153694	NP_710161	Q8IZU3	SYCP3_HUMAN			5	378	-			82						Missense_Mutation	SNP	ENST00000392927.3	37	c.246C>A	CCDS9087.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.876458	0.33162	.	.	ENSG00000139351	ENST00000266743;ENST00000392927;ENST00000392924	.	.	.	5.54	3.67	0.42095	.	0.275088	0.39615	N	0.001307	T	0.40645	0.1125	L	0.40543	1.245	0.44282	D	0.997145	B	0.20261	0.043	B	0.23419	0.046	T	0.20338	-1.0278	9	0.02654	T	1	-5.2268	7.5272	0.27662	0.1423:0.0:0.7215:0.1361	.	82	Q8IZU3	SYCP3_HUMAN	K	82	.	ENSP00000266743:N82K	N	-	3	2	SYCP3	100652943	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.451000	0.44952	0.661000	0.30985	0.313000	0.20887	AAC		0.308	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316478.2	NM_153694	
EIF2B1	1967	broad.mit.edu	37	12	124111633	124111633	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr12:124111633C>T	ENST00000424014.2	-	5	648	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	EIF2B1_ENST00000539951.1_Missense_Mutation_p.R134Q|EIF2B1_ENST00000537073.1_Missense_Mutation_p.R147Q	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	147					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TACACTAAATCGCTTCTTGGC	0.502																																						uc001ufm.2																			0					0						c.(439-441)CGA>CAA		eukaryotic translation initiation factor 2B,							147.0	120.0	129.0					12																	124111633		2203	4300	6503	SO:0001583	missense	1967				cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity	g.chr12:124111633C>T	X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"""eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"""	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.440G>A	12.37:g.124111633C>T	ENSP00000416250:p.Arg147Gln					EIF2B1_uc001ufn.2_Missense_Mutation_p.R147Q|EIF2B1_uc010tat.1_Missense_Mutation_p.R147Q	p.R147Q	NM_001414	NP_001405	Q14232	EI2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)	5	583	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		147					A6NLY9|B4DGX0|Q3SXP4	Missense_Mutation	SNP	ENST00000424014.2	37	c.440G>A	CCDS31924.1	.	.	.	.	.	.	.	.	.	.	C	35	5.580663	0.96565	.	.	ENSG00000111361	ENST00000424014;ENST00000228958;ENST00000539951;ENST00000537073	D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08	5.72	5.72	0.89469	.	0.094005	0.85682	D	0.000000	D	0.95506	0.8540	M	0.70595	2.14	0.80722	D	1	D;D;B	0.89917	1.0;0.999;0.19	D;P;B	0.72625	0.978;0.906;0.031	D	0.94317	0.7550	10	0.36615	T	0.2	-12.0031	18.0774	0.89432	0.0:1.0:0.0:0.0	.	147;134;147	B4DGX0;F5H0D0;Q14232	.;.;EI2BA_HUMAN	Q	147;147;134;147	ENSP00000416250:R147Q;ENSP00000228958:R147Q;ENSP00000438060:R134Q;ENSP00000444183:R147Q	ENSP00000228958:R147Q	R	-	2	0	EIF2B1	122677586	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	7.376000	0.79658	2.691000	0.91804	0.655000	0.94253	CGA		0.502	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400628.1	NM_001414	
TMEM62	80021	broad.mit.edu	37	15	43476674	43476674	+	Missense_Mutation	SNP	C	C	T	rs146146981		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr15:43476674C>T	ENST00000260403.2	+	14	2101	c.1822C>T	c.(1822-1824)Cgg>Tgg	p.R608W	CCNDBP1_ENST00000356633.5_5'Flank|EPB42_ENST00000563128.1_Intron|CCNDBP1_ENST00000300213.4_5'Flank|RP11-473C18.3_ENST00000565685.1_RNA	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	608						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		CTCCCCTTTGCGGACCTGGTT	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		22561	0.0		0.0	False		,,,				2504	0.001					uc001zqr.2																			0				ovary(1)|breast(1)	2						c.(1822-1824)CGG>TGG		transmembrane protein 62		C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	192.0	189.0	190.0		1822	0.7	1.0	15	dbSNP_134	190	0,8598		0,0,4299	no	missense	TMEM62	NM_024956.3	101	0,2,6500	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	608/644	43476674	2,13002	2203	4299	6502	SO:0001583	missense	80021					integral to membrane		g.chr15:43476674C>T	BC009981	CCDS32210.1	15q15.2	2014-09-11			ENSG00000137842	ENSG00000137842			26269	protein-coding gene	gene with protein product							Standard	NM_024956		Approved	FLJ23375	uc001zqr.3	Q0P6H9	OTTHUMG00000176485	ENST00000260403.2:c.1822C>T	15.37:g.43476674C>T	ENSP00000260403:p.Arg608Trp					TMEM62_uc010bda.2_Missense_Mutation_p.R443W|TMEM62_uc001zqt.2_Missense_Mutation_p.R177W|CCNDBP1_uc001zqu.2_5'Flank|CCNDBP1_uc001zqv.2_5'Flank|CCNDBP1_uc010bdc.2_5'Flank|CCNDBP1_uc010bdb.2_5'Flank|CCNDBP1_uc010udl.1_5'Flank|CCNDBP1_uc001zqw.2_5'Flank|CCNDBP1_uc001zqx.2_5'Flank|CCNDBP1_uc010bdd.2_5'Flank|CCNDBP1_uc001zqy.2_5'Flank	p.R608W	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN		GBM - Glioblastoma multiforme(94;4.23e-07)	14	2101	+		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	608			Helical; (Potential).		Q6I9Y5|Q9H5J6	Missense_Mutation	SNP	ENST00000260403.2	37	c.1822C>T	CCDS32210.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.074068	0.76415	4.54E-4	0.0	ENSG00000137842	ENST00000260403	.	.	.	5.13	0.738	0.18319	.	0.237839	0.40818	N	0.001014	T	0.65186	0.2667	M	0.69823	2.125	0.46954	D	0.999266	D	0.76494	0.999	P	0.60949	0.881	T	0.63883	-0.6536	9	0.87932	D	0	-4.6638	5.927	0.19118	0.5871:0.245:0.0:0.1678	.	608	Q0P6H9	TMM62_HUMAN	W	608	.	ENSP00000260403:R608W	R	+	1	2	TMEM62	41263966	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	1.963000	0.40452	0.287000	0.22375	0.561000	0.74099	CGG		0.448	TMEM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432227.1	NM_024956	
MYO5A	4644	broad.mit.edu	37	15	52681529	52681529	+	Missense_Mutation	SNP	T	T	G			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr15:52681529T>G	ENST00000399231.3	-	13	1817	c.1574A>C	c.(1573-1575)cAa>cCa	p.Q525P	MYO5A_ENST00000553916.1_Missense_Mutation_p.Q525P|MYO5A_ENST00000399233.2_Missense_Mutation_p.Q525P|MYO5A_ENST00000358212.6_Missense_Mutation_p.Q525P|MYO5A_ENST00000356338.6_Missense_Mutation_p.Q525P	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	525	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTACAATTTTTGGGCCCAGGT	0.378																																						uc002aby.2																			0				ovary(3)|central_nervous_system(1)	4						c.(1573-1575)CAA>CCA		myosin VA isoform 1							95.0	86.0	89.0					15																	52681529		1834	4085	5919	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52681529T>G		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.1574A>C	15.37:g.52681529T>G	ENSP00000382177:p.Gln525Pro					MYO5A_uc002abx.3_Missense_Mutation_p.Q525P|MYO5A_uc010uge.1_Missense_Mutation_p.Q394P	p.Q525P	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	13	1818	-			525			Myosin head-like.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.1574A>C	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.709912	0.89018	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.95518	-3.73;-3.73;-3.73;-3.73;-3.73	5.78	5.78	0.91487	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.98009	0.9344	M	0.89414	3.03	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.83275	0.979;0.996	D	0.98818	1.0746	10	0.66056	D	0.02	.	16.1115	0.81266	0.0:0.0:0.0:1.0	.	525;525	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	P	525;59;525;525;525;155;525	ENSP00000382177:Q525P;ENSP00000382179:Q525P;ENSP00000348693:Q525P;ENSP00000350945:Q525P;ENSP00000451109:Q525P	ENSP00000348693:Q525P	Q	-	2	0	MYO5A	50468821	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.207000	0.71202	0.460000	0.39030	CAA		0.378	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259	
TMC3	342125	broad.mit.edu	37	15	81625404	81625404	+	Missense_Mutation	SNP	A	A	C			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr15:81625404A>C	ENST00000359440.5	-	22	2794	c.2659T>G	c.(2659-2661)Tac>Gac	p.Y887D	TMC3_ENST00000558726.1_Missense_Mutation_p.Y888D|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ATGACATAGTATCTGGGGGCG	0.473																																						uc002bgo.1																			0				ovary(1)|liver(1)	2						c.(2659-2661)TAC>GAC		transmembrane channel-like 3							100.0	95.0	97.0					15																	81625404		1901	4136	6037	SO:0001583	missense	342125					integral to membrane		g.chr15:81625404A>C	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2659T>G	15.37:g.81625404A>C	ENSP00000352413:p.Tyr887Asp					TMC3_uc010blr.1_RNA	p.Y887D	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN			22	2659	-			887			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000359440.5	37	c.2659T>G	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.671173	0.47781	.	.	ENSG00000188869	ENST00000359440	T	0.78126	-1.15	5.42	5.42	0.78866	.	0.378331	0.17938	U	0.156931	T	0.81941	0.4929	M	0.71581	2.175	0.47547	D	0.999459	P	0.51933	0.949	P	0.48454	0.578	D	0.84458	0.0592	10	0.87932	D	0	-4.2182	15.4962	0.75653	1.0:0.0:0.0:0.0	.	887	Q7Z5M5	TMC3_HUMAN	D	887	ENSP00000352413:Y887D	ENSP00000352413:Y887D	Y	-	1	0	TMC3	79412459	1.000000	0.71417	0.034000	0.17996	0.066000	0.16364	4.070000	0.57548	2.058000	0.61347	0.533000	0.62120	TAC		0.473	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841	
RANBP10	57610	broad.mit.edu	37	16	67840366	67840366	+	Frame_Shift_Del	DEL	C	C	-			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr16:67840366delC	ENST00000317506.3	-	1	189	c.74delG	c.(73-75)ggcfs	p.G26fs	RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000602677.1_Frame_Shift_Del_p.G26fs|RANBP10_ENST00000411657.2_5'UTR|RANBP10_ENST00000425512.2_5'UTR|TSNAXIP1_ENST00000388833.3_5'Flank|TSNAXIP1_ENST00000415766.3_5'Flank|RANBP10_ENST00000448631.2_Frame_Shift_Del_p.G26fs|TSNAXIP1_ENST00000561639.1_5'Flank|RANBP10_ENST00000602887.1_5'UTR	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	26					microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CGGCAGCCCGCCCCCAGCGCC	0.711																																						uc002eud.2																			0				ovary(1)	1						c.(73-75)GGCfs		RAN binding protein 10							6.0	7.0	7.0					16																	67840366		2102	4109	6211	SO:0001589	frameshift_variant	57610							g.chr16:67840366delC	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.74delG	16.37:g.67840366delC	ENSP00000316589:p.Gly26fs					RANBP10_uc010ceo.2_5'UTR|RANBP10_uc010vju.1_Frame_Shift_Del_p.G25fs|RANBP10_uc010vjv.1_5'UTR|RANBP10_uc010vjx.1_Frame_Shift_Del_p.G25fs|RANBP10_uc010vjy.1_5'UTR|TSNAXIP1_uc010cep.2_5'Flank|TSNAXIP1_uc010vjz.1_5'Flank|TSNAXIP1_uc002euf.3_5'Flank|TSNAXIP1_uc010vka.1_5'Flank|TSNAXIP1_uc010vkb.1_5'Flank|TSNAXIP1_uc002eug.3_5'Flank|TSNAXIP1_uc002euh.3_5'Flank|TSNAXIP1_uc002eui.3_5'Flank|TSNAXIP1_uc002euj.2_5'Flank	p.G25fs	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	1	190	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	25					A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Frame_Shift_Del	DEL	ENST00000317506.3	37	c.74delG	CCDS32469.1																																																																																				0.711	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850	
TP53	7157	broad.mit.edu	37	17	7578211	7578211	+	Missense_Mutation	SNP	C	C	T	rs587778720		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr17:7578211C>T	ENST00000269305.4	-	6	827	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	TP53_ENST00000420246.2_Missense_Mutation_p.R213Q|TP53_ENST00000455263.2_Missense_Mutation_p.R213Q|TP53_ENST00000445888.2_Missense_Mutation_p.R213Q|TP53_ENST00000413465.2_Missense_Mutation_p.R213Q|TP53_ENST00000359597.4_Missense_Mutation_p.R213Q|TP53_ENST00000574684.1_Intron	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		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.R213L(38)|p.R213Q(29)|p.0?(8)|p.R213P(5)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R120Q(2)|p.R81Q(2)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	CACACTATGTCGAAAAGTGTT	0.532		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)	uc002gim.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		110	Substitution - Missense(85)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.R213*(182)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	prostate(15)|large_intestine(14)|urinary_tract(9)|liver(9)|haematopoietic_and_lymphoid_tissue(8)|biliary_tract(6)|stomach(6)|oesophagus(6)|kidney(5)|lung(5)|central_nervous_system(4)|ovary(4)|pancreas(4)|bone(4)|upper_aerodigestive_tract(3)|soft_tissue(2)|eye(2)|vulva(1)|endometrium(1)|skin(1)|breast(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM004906|CM022474	TP53	M		c.(637-639)CGA>CAA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							132.0	118.0	122.0					17																	7578211		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578211C>T	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.638G>A	17.37:g.7578211C>T	ENSP00000269305:p.Arg213Gln	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_uc002gig.1_Missense_Mutation_p.R213Q|TP53_uc002gih.2_Missense_Mutation_p.R213Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R81Q|TP53_uc010cng.1_Missense_Mutation_p.R81Q|TP53_uc002gii.1_Missense_Mutation_p.R81Q|TP53_uc010cnh.1_Missense_Mutation_p.R213Q|TP53_uc010cni.1_Missense_Mutation_p.R213Q|TP53_uc002gij.2_Missense_Mutation_p.R213Q|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.R120Q|TP53_uc002gio.2_Missense_Mutation_p.R81Q|TP53_uc010vug.1_Missense_Mutation_p.R174Q	p.R213Q	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	832	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (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	Missense_Mutation	SNP	ENST00000269305.4	37	c.638G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	37	6.233765	0.97399	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	5.28	4.32	0.51571	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057335	0.64402	N	0.000003	D	0.99871	0.9939	M	0.92507	3.315	0.50039	D	0.999845	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.993;0.996;1.0;0.995;0.994;0.999	D	0.96662	0.9490	10	0.87932	D	0	-7.5444	11.7807	0.52013	0.0:0.9141:0.0:0.0859	.	174;213;213;120;213;213;213	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Q	213;213;213;213;213;213;202;120;81;120;81	ENSP00000410739:R213Q;ENSP00000352610:R213Q;ENSP00000269305:R213Q;ENSP00000398846:R213Q;ENSP00000391127:R213Q;ENSP00000391478:R213Q;ENSP00000425104:R81Q;ENSP00000423862:R120Q	ENSP00000269305:R213Q	R	-	2	0	TP53	7518936	0.996000	0.38824	0.185000	0.23176	0.961000	0.63080	7.775000	0.85489	1.367000	0.46095	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
INSR	3643	broad.mit.edu	37	19	7120678	7120678	+	Silent	SNP	T	T	C			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr19:7120678T>C	ENST00000302850.5	-	20	3754	c.3612A>G	c.(3610-3612)gcA>gcG	p.A1204A	INSR_ENST00000341500.5_Silent_p.A1192A	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1204	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GGGACTCCGGTGCCATCCACC	0.522																																						uc002mgd.1																			0				ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12						c.(3610-3612)GCA>GCG		insulin receptor isoform Long precursor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						144.0	112.0	123.0					19																	7120678		2203	4300	6503	SO:0001819	synonymous_variant	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7120678T>C	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3612A>G	19.37:g.7120678T>C						INSR_uc002mge.1_Silent_p.A1192A	p.A1204A	NM_000208	NP_000199	P06213	INSR_HUMAN			20	3721	-			1204			Protein kinase.|Cytoplasmic (Potential).		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	c.3612A>G	CCDS12176.1																																																																																				0.522	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1		
PNPLA6	10908	broad.mit.edu	37	19	7622102	7622102	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr19:7622102T>C	ENST00000221249.6	+	30	3646	c.3215T>C	c.(3214-3216)cTg>cCg	p.L1072P	PNPLA6_ENST00000414982.3_Missense_Mutation_p.L1120P|PNPLA6_ENST00000600737.1_Missense_Mutation_p.L1110P|PNPLA6_ENST00000545201.2_Missense_Mutation_p.L1045P|PNPLA6_ENST00000450331.3_Missense_Mutation_p.L1072P	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1111	Patatin.				angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TCGGGCTACCTGCCCCCGCTG	0.662																																						uc010xjq.1																			0				ovary(3)	3						c.(3358-3360)CTG>CCG		neuropathy target esterase isoform b							61.0	53.0	56.0					19																	7622102		2203	4299	6502	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7622102T>C	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.3215T>C	19.37:g.7622102T>C	ENSP00000221249:p.Leu1072Pro					PNPLA6_uc002mgq.1_Missense_Mutation_p.L1072P|PNPLA6_uc010xjp.1_Missense_Mutation_p.L1045P|PNPLA6_uc002mgr.1_Missense_Mutation_p.L1072P|PNPLA6_uc002mgs.2_Missense_Mutation_p.L1110P|PNPLA6_uc002mgt.1_RNA	p.L1120P	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN			29	3554	+			1111			Patatin.|Cytoplasmic (Potential).		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.3359T>C	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	t	15.98	2.991970	0.54041	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	4.09	4.09	0.47781	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.101398	0.42548	D	0.000690	D	0.90669	0.7073	H	0.96365	3.81	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.76071	0.985;0.974;0.974;0.987	D	0.92511	0.6016	10	0.87932	D	0	.	11.0965	0.48147	0.0:0.0:0.0:1.0	.	1111;1045;1110;1072	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	P	1072;1045;1120;1072	ENSP00000221249:L1072P;ENSP00000443323:L1045P;ENSP00000407509:L1120P;ENSP00000394348:L1072P	ENSP00000221249:L1072P	L	+	2	0	PNPLA6	7528102	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	7.800000	0.85949	1.726000	0.51525	0.397000	0.26171	CTG		0.662	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702	
SLC1A6	6511	broad.mit.edu	37	19	15061033	15061033	+	Missense_Mutation	SNP	G	G	A	rs370044376		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr19:15061033G>A	ENST00000221742.3	-	9	1676	c.1669C>T	c.(1669-1671)Cgg>Tgg	p.R557W	SLC1A6_ENST00000430939.2_Missense_Mutation_p.R493W|SLC1A6_ENST00000600144.1_Missense_Mutation_p.R479W	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	557					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						TTGCCTCCCCGTCCCCGGGAT	0.647																																						uc002naa.1																			0				pancreas(3)|ovary(2)|skin(1)	6						c.(1669-1671)CGG>TGG		solute carrier family 1 (high affinity	L-Glutamic Acid(DB00142)	G	TRP/ARG	0,4406		0,0,2203	32.0	28.0	29.0		1669	4.1	1.0	19		29	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC1A6	NM_005071.1	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	557/565	15061033	1,13005	2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15061033G>A		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1669C>T	19.37:g.15061033G>A	ENSP00000221742:p.Arg557Trp					SLC1A6_uc010dzu.1_Missense_Mutation_p.R479W|SLC1A6_uc010xod.1_Missense_Mutation_p.R493W	p.R557W	NM_005071	NP_005062	P48664	EAA4_HUMAN			9	1677	-			557					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.1669C>T	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	g	20.6	4.017082	0.75161	0.0	1.16E-4	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.74526	-0.85;0.39	5.23	4.12	0.48240	.	0.350237	0.29126	N	0.013062	T	0.70780	0.3263	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.66979	0.948;0.812	T	0.75124	-0.3428	10	0.52906	T	0.07	-22.9876	12.9637	0.58472	0.0:0.1641:0.8359:0.0	.	493;557	E7EV13;P48664	.;EAA4_HUMAN	W	493;557	ENSP00000409386:R493W;ENSP00000221742:R557W	ENSP00000221742:R557W	R	-	1	2	SLC1A6	14922033	0.827000	0.29292	0.969000	0.41365	0.904000	0.53231	2.665000	0.46791	2.449000	0.82847	0.544000	0.68410	CGG		0.647	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071	
FFAR3	2865	broad.mit.edu	37	19	35850547	35850547	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr19:35850547G>T	ENST00000327809.4	+	2	956	c.755G>T	c.(754-756)gGt>gTt	p.G252V	FFAR3_ENST00000594310.1_Missense_Mutation_p.G252V	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	252					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TATATCTGCGGTGAAAGCCCG	0.607																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	uc002nzd.2																			0					0						c.(754-756)GGT>GTT		free fatty acid receptor 3							285.0	206.0	233.0					19																	35850547		2201	4298	6499	SO:0001583	missense	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35850547G>T	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.755G>T	19.37:g.35850547G>T	ENSP00000328230:p.Gly252Val					FFAR3_uc010xsu.1_Intron	p.G252V	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	830	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		252			Extracellular (Potential).		B2RWM8|Q14CM7	Missense_Mutation	SNP	ENST00000327809.4	37	c.755G>T	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	G	3.128	-0.178964	0.06380	.	.	ENSG00000185897	ENST00000327809	T	0.71817	-0.6	5.13	3.01	0.34805	GPCR, rhodopsin-like superfamily (1);	0.664365	0.15132	U	0.278803	T	0.68284	0.2984	L	0.60455	1.87	0.09310	N	0.999999	P	0.50066	0.931	P	0.48738	0.588	T	0.56056	-0.8042	10	0.12766	T	0.61	-5.2777	9.6688	0.40000	0.173:0.0:0.827:0.0	.	252	O14843	FFAR3_HUMAN	V	252	ENSP00000328230:G252V	ENSP00000328230:G252V	G	+	2	0	FFAR3	40542387	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.811000	0.27198	0.566000	0.29273	-0.463000	0.05309	GGT		0.607	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304	
DPRX	503834	broad.mit.edu	37	19	54140039	54140039	+	Nonsense_Mutation	SNP	C	C	T	rs150237904		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr19:54140039C>T	ENST00000376650.1	+	3	424	c.373C>T	c.(373-375)Cga>Tga	p.R125*		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	125					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CACGGGTCATCGAGTCCCCTC	0.567																																						uc002qcf.1																			0					0						c.(373-375)CGA>TGA		divergent-paired related homeobox		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	135.0	108.0	117.0		373	0.3	0.0	19	dbSNP_134	117	0,8600		0,0,4300	no	stop-gained	DPRX	NM_001012728.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		125/192	54140039	1,13005	2203	4300	6503	SO:0001587	stop_gained	503834					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:54140039C>T		CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"""Homeoboxes / PRD class"""	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.373C>T	19.37:g.54140039C>T	ENSP00000365838:p.Arg125*						p.R125*	NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN		GBM - Glioblastoma multiforme(134;0.013)	3	424	+	Ovarian(34;0.19)		125						Nonsense_Mutation	SNP	ENST00000376650.1	37	c.373C>T	CCDS33103.1	.	.	.	.	.	.	.	.	.	.	c	10.36	1.329849	0.24167	2.27E-4	0.0	ENSG00000204595	ENST00000376650	.	.	.	1.45	0.297	0.15762	.	.	.	.	.	.	.	.	.	.	.	0.47737	D	0.999504	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	4.657	0.12622	0.3718:0.6282:0.0:0.0	.	.	.	.	X	125	.	ENSP00000365838:R125X	R	+	1	2	DPRX	58831851	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.280000	0.18790	0.140000	0.18849	0.561000	0.74099	CGA		0.567	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1	NM_001012728	
DRC1	92749	broad.mit.edu	37	2	26637295	26637295	+	Missense_Mutation	SNP	G	G	A	rs148643291		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr2:26637295G>A	ENST00000288710.2	+	2	313	c.239G>A	c.(238-240)cGa>cAa	p.R80Q		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	80					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											GAAGAAAGCCGATTGGTATGA	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		15415	0.0		0.001	False		,,,				2504	0.0					uc002rhg.2																			0					0						c.(238-240)CGA>CAA		hypothetical protein LOC92749		G	GLN/ARG	0,4406		0,0,2203	105.0	91.0	96.0		239	5.2	1.0	2	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC164	NM_145038.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	80/741	26637295	1,13005	2203	4300	6503	SO:0001583	missense	92749							g.chr2:26637295G>A	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.239G>A	2.37:g.26637295G>A	ENSP00000288710:p.Arg80Gln					C2orf39_uc010eym.1_RNA	p.R80Q	NM_145038	NP_659475	Q96MC2	CC164_HUMAN			2	313	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		80					A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	c.239G>A	CCDS1723.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	27.8	4.864594	0.91511	0.0	1.16E-4	ENSG00000157856	ENST00000288710	T	0.16073	2.37	5.25	5.25	0.73442	.	0.312008	0.34025	N	0.004327	T	0.39937	0.1097	M	0.65498	2.005	0.33401	D	0.577305	D	0.89917	1.0	D	0.79784	0.993	T	0.46884	-0.9159	10	0.36615	T	0.2	-18.2318	16.1378	0.81497	0.0:0.0:1.0:0.0	.	80	Q96MC2	CC164_HUMAN	Q	80	ENSP00000288710:R80Q	ENSP00000288710:R80Q	R	+	2	0	CCDC164	26490799	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.502000	0.66956	2.604000	0.88044	0.650000	0.86243	CGA		0.448	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038	
LRP2	4036	broad.mit.edu	37	2	170163790	170163790	+	Splice_Site	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr2:170163790C>T	ENST00000263816.3	-	4	713		c.e4+1		LRP2_ENST00000443831.1_Splice_Site	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2						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)"""	AACAGACTCACGGCAGTCATT	0.438																																						uc002ues.2																			0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.e4+1		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						135.0	102.0	113.0					2																	170163790		2203	4300	6503	SO:0001630	splice_region_variant	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.chr2:170163790C>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.427+1G>A	2.37:g.170163790C>T						LRP2_uc010zdf.1_Splice_Site_p.Q143_splice	p.Q143_splice	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	4	640	-								O00711|Q16215	Splice_Site	SNP	ENST00000263816.3	37	c.427_splice	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177933	0.78564	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2191	0.93789	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP2	169872036	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.003000	0.76310	2.604000	0.88044	0.557000	0.71058	.		0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	Intron
ICA1L	130026	broad.mit.edu	37	2	203650727	203650727	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr2:203650727C>G	ENST00000392237.2	-	13	1404	c.1247G>C	c.(1246-1248)tGg>tCg	p.W416S	ICA1L_ENST00000358299.2_Missense_Mutation_p.W416S	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	416										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGGGAGACCCAGTCTGGGAT	0.358																																						uc002uzh.1																			0					0						c.(1246-1248)TGG>TCG		islet cell autoantigen 1,69kDa-like isoform 1							78.0	83.0	82.0					2																	203650727		2203	4300	6503	SO:0001583	missense	130026							g.chr2:203650727C>G	AB053317	CCDS2354.1, CCDS74632.1	2q33	2008-02-05	2006-05-26	2006-05-26	ENSG00000163596	ENSG00000163596			14442	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14"""	ALS2CR15, ALS2CR14		11586298	Standard	NM_138468		Approved		uc002uzh.1	Q8NDH6	OTTHUMG00000132856	ENST00000392237.2:c.1247G>C	2.37:g.203650727C>G	ENSP00000376070:p.Trp416Ser					ICA1L_uc002uzi.1_Missense_Mutation_p.W416S	p.W416S	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN			13	1411	-			416					B3KRW6|Q53P45|Q53QZ4|Q53T97|Q96N47|Q96Q32|Q9BVQ2	Missense_Mutation	SNP	ENST00000392237.2	37	c.1247G>C	CCDS2354.1	.	.	.	.	.	.	.	.	.	.	C	0.047	-1.262957	0.01445	.	.	ENSG00000163596	ENST00000392237;ENST00000358299	.	.	.	4.99	4.11	0.48088	Islet cell autoantigen Ica1, C-terminal (1);	0.547984	0.18643	N	0.135226	T	0.56307	0.1976	M	0.64997	1.995	0.80722	D	1	B	0.13594	0.008	B	0.11329	0.006	T	0.50841	-0.8780	9	0.22109	T	0.4	.	10.5973	0.45345	0.1922:0.8078:0.0:0.0	.	416	Q8NDH6	ICA1L_HUMAN	S	416	.	ENSP00000351047:W416S	W	-	2	0	ICA1L	203358972	1.000000	0.71417	0.993000	0.49108	0.074000	0.17049	1.437000	0.34991	1.294000	0.44707	0.558000	0.71614	TGG		0.358	ICA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256330.1	NM_138468	
BPIFB1	92747	broad.mit.edu	37	20	31878893	31878893	+	Missense_Mutation	SNP	C	C	T	rs149436006	byFrequency	TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr20:31878893C>T	ENST00000253354.1	+	5	657	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C		NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	166					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										TGGGAGCCTGCGCATCCAACT	0.617																																						uc002wyw.1																			0				central_nervous_system(2)|skin(2)	4						c.(496-498)CGC>TGC		LPLUNC1 protein precursor							55.0	49.0	51.0					20																	31878893		2203	4300	6503	SO:0001583	missense	92747					extracellular space	lipid binding	g.chr20:31878893C>T	BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"""BPI fold containing"""	16108	protein-coding gene	gene with protein product	"""von Ebner minor salivary gland protein"""		"""chromosome 20 open reading frame 114"""	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.496C>T	20.37:g.31878893C>T	ENSP00000253354:p.Arg166Cys					C20orf114_uc010gej.1_Missense_Mutation_p.R166C	p.R166C	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN			5	657	+			166					A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	ENST00000253354.1	37	c.496C>T	CCDS13218.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775534	0.49786	.	.	ENSG00000125999	ENST00000253354	T	0.06371	3.31	5.22	5.22	0.72569	.	0.227351	0.31709	N	0.007197	T	0.23688	0.0573	M	0.75447	2.3	0.47094	D	0.999316	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.966	T	0.00124	-1.2023	9	.	.	.	-14.3295	14.6509	0.68797	0.0:1.0:0.0:0.0	.	166;166	B2R7Z6;Q8TDL5	.;BPIB1_HUMAN	C	166	ENSP00000253354:R166C	.	R	+	1	0	BPIFB1	31342554	0.997000	0.39634	0.957000	0.39632	0.032000	0.12392	1.268000	0.33062	2.601000	0.87937	0.561000	0.74099	CGC		0.617	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106499.2	NM_033197	
TRIOBP	11078	broad.mit.edu	37	22	38120288	38120288	+	Silent	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr22:38120288C>T	ENST00000406386.3	+	7	1980	c.1725C>T	c.(1723-1725)ccC>ccT	p.P575P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	575					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAGACAACCCCAGAACATCCT	0.582																																						uc003atr.2																			0				central_nervous_system(1)	1						c.(1723-1725)CCC>CCT		TRIO and F-actin binding protein isoform 6							60.0	99.0	87.0					22																	38120288		1896	4133	6029	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120288C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1725C>T	22.37:g.38120288C>T						TRIOBP_uc003atu.2_Silent_p.P403P|TRIOBP_uc003atq.1_Silent_p.P575P|TRIOBP_uc003ats.1_Silent_p.P403P	p.P575P	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	1996	+	Melanoma(58;0.0574)		575					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1725C>T	CCDS43015.1																																																																																				0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2		
DOCK3	1795	broad.mit.edu	37	3	51315131	51315131	+	Silent	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr3:51315131C>T	ENST00000266037.9	+	26	2792	c.2769C>T	c.(2767-2769)caC>caT	p.H923H		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	923					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCAAATCGCACGCTCAGGAGG	0.552																																						uc011bds.1																			0					0						c.(2767-2769)CAC>CAT		dedicator of cytokinesis 3							47.0	49.0	49.0					3																	51315131		2064	4195	6259	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51315131C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2769C>T	3.37:g.51315131C>T							p.H923H	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	26	2792	+			923					O15017	Silent	SNP	ENST00000266037.9	37	c.2769C>T	CCDS46835.1																																																																																				0.552	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	
FHIT	2272	broad.mit.edu	37	3	59999845	59999845	+	Missense_Mutation	SNP	C	C	T	rs575922146		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr3:59999845C>T	ENST00000468189.1	-	6	507	c.137G>A	c.(136-138)cGc>cAc	p.R46H	FHIT_ENST00000466788.1_Intron|FHIT_ENST00000341848.4_Missense_Mutation_p.R46H|FHIT_ENST00000492590.1_Missense_Mutation_p.R46H|FHIT_ENST00000476844.1_Missense_Mutation_p.R46H			P49789	FHIT_HUMAN	fragile histidine triad	46	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				DNA replication (GO:0006260)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide metabolic process (GO:0009117)|purine nucleotide metabolic process (GO:0006163)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|catalytic activity (GO:0003824)|hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		GTCATGGAAGCGCTCCACTGG	0.542			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3				C|||	1	0.000199681	0.0	0.0	5008	,	,		18268	0.0		0.0	False		,,,				2504	0.001					uc003dkx.3				Dom	yes		3	3p14.2	2272	T	fragile histidine triad gene			E	HMGA2		pleomorphic salivary gland adenoma		0					0						c.(136-138)CGC>CAC		fragile histidine triad gene							85.0	84.0	85.0					3																	59999845		2203	4300	6503	SO:0001583	missense	2272	Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3	Familial Cancer Database		nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding	g.chr3:59999845C>T	BC032336	CCDS2894.1	3p14.2	2012-02-27	2012-02-27		ENSG00000189283	ENSG00000189283			3701	protein-coding gene	gene with protein product		601153	"""fragile histidine triad gene"""			8598045, 9671749	Standard	NM_002012		Approved	FRA3B, AP3Aase	uc003dky.3	P49789	OTTHUMG00000158591	ENST00000468189.1:c.137G>A	3.37:g.59999845C>T	ENSP00000417480:p.Arg46His					FHIT_uc003dky.2_Missense_Mutation_p.R46H|FHIT_uc010hnn.1_Missense_Mutation_p.R46H	p.R46H	NM_002012	NP_002003	P49789	FHIT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)	6	508	-		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)	46			HIT.		A2IAS9|A2IAT0|A2IAT6|A8K1A9|Q45QG9|Q6IU12	Missense_Mutation	SNP	ENST00000468189.1	37	c.137G>A	CCDS2894.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525869	0.64860	.	.	ENSG00000189283	ENST00000492590;ENST00000476844;ENST00000468189;ENST00000341848;ENST00000488467	D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91	5.96	5.96	0.96718	Histidine triad motif (1);Histidine triad-like motif (1);	0.104394	0.64402	D	0.000004	D	0.95341	0.8488	M	0.80508	2.5	0.48830	D	0.999719	D	0.60160	0.987	P	0.57152	0.814	D	0.94686	0.7870	9	.	.	.	-12.246	18.6025	0.91253	0.0:1.0:0.0:0.0	.	46	P49789	FHIT_HUMAN	H	46	ENSP00000418582:R46H;ENSP00000417557:R46H;ENSP00000417480:R46H;ENSP00000342087:R46H;ENSP00000418596:R46H	.	R	-	2	0	FHIT	59974885	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	3.829000	0.55760	2.832000	0.97577	0.655000	0.94253	CGC		0.542	FHIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351648.1	NM_002012	
ZBED2	79413	broad.mit.edu	37	3	111312907	111312907	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr3:111312907G>A	ENST00000317012.4	-	2	1150	c.142C>T	c.(142-144)Cac>Tac	p.H48Y	CD96_ENST00000352690.4_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000438817.2_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	48							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(2)	6						CCCTTGTTGTGGGGCATTGGA	0.552																																						uc003dxy.2																			0				skin(1)	1						c.(142-144)CAC>TAC		zinc finger, BED domain containing 2							198.0	176.0	184.0					3																	111312907		2203	4300	6503	SO:0001583	missense	79413						DNA binding|metal ion binding	g.chr3:111312907G>A	BC003536	CCDS2960.2	3p13-q13.2	2013-05-03			ENSG00000177494	ENSG00000177494		"""Zinc fingers, BED-type"""	20710	protein-coding gene	gene with protein product		615246				23533661	Standard	NM_024508		Approved	MGC10796	uc003dxy.3	Q9BTP6	OTTHUMG00000074061	ENST00000317012.4:c.142C>T	3.37:g.111312907G>A	ENSP00000321370:p.His48Tyr					CD96_uc003dxv.2_Intron|CD96_uc003dxw.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron	p.H48Y	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN			2	1027	-			48					D3DN62	Missense_Mutation	SNP	ENST00000317012.4	37	c.142C>T	CCDS2960.2	.	.	.	.	.	.	.	.	.	.	G	5.438	0.265876	0.10294	.	.	ENSG00000177494	ENST00000317012	.	.	.	3.93	3.05	0.35203	.	0.320684	0.21984	N	0.066243	T	0.24928	0.0605	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.13308	-1.0514	9	0.24483	T	0.36	-4.2304	7.5502	0.27793	0.1195:0.0:0.8805:0.0	.	48	Q9BTP6	ZBED2_HUMAN	Y	48	.	ENSP00000321370:H48Y	H	-	1	0	ZBED2	112795597	1.000000	0.71417	0.099000	0.21106	0.309000	0.27889	2.571000	0.45990	1.011000	0.39340	0.563000	0.77884	CAC		0.552	ZBED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157228.2	NM_024508	
MAATS1	89876	broad.mit.edu	37	3	119462849	119462849	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr3:119462849G>A	ENST00000273390.5	+	14	1785	c.1708G>A	c.(1708-1710)Gga>Aga	p.G570R	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	406						mitochondrion (GO:0005739)		p.G570*(1)									CCATTTGGCCGGACTGGAAGG	0.453																																						uc003ede.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1708-1710)GGA>AGA		AAT1-alpha							80.0	72.0	75.0					3																	119462849		2203	4300	6503	SO:0001583	missense	89876					mitochondrion	protein binding	g.chr3:119462849G>A	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1708G>A	3.37:g.119462849G>A	ENSP00000273390:p.Gly570Arg					C3orf15_uc010hqz.2_Missense_Mutation_p.G508R|C3orf15_uc011bjd.1_Missense_Mutation_p.G444R|C3orf15_uc011bje.1_Missense_Mutation_p.G550R	p.G570R	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	14	1785	+			406			Potential.		A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.1708G>A	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.360748	0.24598	.	.	ENSG00000183833	ENST00000273390	T	0.21734	1.99	5.84	5.84	0.93424	.	0.303432	0.35555	N	0.003139	T	0.16685	0.0401	L	0.46157	1.445	0.25101	N	0.990783	B;B;B	0.30361	0.054;0.277;0.054	B;B;B	0.29077	0.011;0.098;0.019	T	0.24119	-1.0169	10	0.08837	T	0.75	-17.2529	10.5728	0.45211	0.0717:0.1979:0.7304:0.0	.	406;508;570	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	R	570	ENSP00000273390:G570R	ENSP00000273390:G570R	G	+	1	0	C3orf15	120945539	0.748000	0.28294	0.782000	0.31804	0.612000	0.37316	1.930000	0.40124	2.765000	0.95021	0.484000	0.47621	GGA		0.453	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364	
MECOM	2122	broad.mit.edu	37	3	168833248	168833248	+	Silent	SNP	G	G	A	rs140021434		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr3:168833248G>A	ENST00000464456.1	-	7	3048	c.1848C>T	c.(1846-1848)aaC>aaT	p.N616N	MECOM_ENST00000468789.1_Silent_p.N616N|MECOM_ENST00000392736.3_Silent_p.N616N|MECOM_ENST00000460814.1_Silent_p.N616N|MECOM_ENST00000472280.1_Silent_p.N617N|MECOM_ENST00000494292.1_Silent_p.N804N|MECOM_ENST00000433243.2_Silent_p.N617N|MECOM_ENST00000264674.3_Silent_p.N681N	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	25					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTGATTCGACGTTGCTTCCTT	0.488																																						uc003ffi.3																			0				lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(1846-1848)AAC>AAT		MDS1 and EVI1 complex locus isoform b		G	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	121.0	110.0	114.0		2043,1848,1851,1848,1848,2412,1848	-1.3	0.0	3	dbSNP_134	114	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MECOM	NM_001105077.3,NM_001105078.3,NM_001163999.1,NM_001164000.1,NM_001205194.1,NM_004991.3,NM_005241.3	,,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,,	681/1117,616/1052,617/1044,616/1043,616/1052,804/1240,616/1052	168833248	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168833248G>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1848C>T	3.37:g.168833248G>A						MECOM_uc010hwk.1_Silent_p.N639N|MECOM_uc003ffj.3_Silent_p.N681N|MECOM_uc011bpi.1_Silent_p.N617N|MECOM_uc003ffn.3_Silent_p.N616N|MECOM_uc003ffk.2_Silent_p.N616N|MECOM_uc003ffl.2_Silent_p.N776N|MECOM_uc011bpj.1_Silent_p.N804N|MECOM_uc011bpk.1_Silent_p.N606N|MECOM_uc010hwn.2_Silent_p.N804N	p.N616N	NM_005241	NP_005232	Q03112	EVI1_HUMAN			7	2117	-			616					Q13466|Q6FH90	Silent	SNP	ENST00000464456.1	37	c.1848C>T	CCDS54669.1																																																																																				0.488	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991	
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	lincRNA	SNP	C	C	T	rs7615357	byFrequency	TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391									long intergenic non-protein coding RNA 969																		GGGGCAAACTCGCTGTTGGAC	0.592																																						uc003fuw.2																			0					0						c.(91-93)CGC>TGC		SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1);																																						727956							g.chr3:195400795C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400795C>T						SDHAP2_uc011btb.1_Missense_Mutation_p.S178L|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA	p.R31C							9	1285	+									Missense_Mutation	SNP	ENST00000445430.1	37	c.91C>T																																																																																					0.592	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1		
JAKMIP1	152789	broad.mit.edu	37	4	6062187	6062187	+	Silent	SNP	G	G	A	rs267600201		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr4:6062187G>A	ENST00000282924.5	-	11	2093	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	JAKMIP1_ENST00000409371.3_Silent_p.I351I|JAKMIP1_ENST00000457227.2_5'Flank|JAKMIP1_ENST00000409021.3_Silent_p.I536I|JAKMIP1_ENST00000409831.1_Silent_p.I536I|JAKMIP1_ENST00000410077.2_Silent_p.I371I	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	536	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCAAATCTTCGATTTTGGCCT	0.532																																						uc003giu.3																			0				large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(1606-1608)ATC>ATT		janus kinase and microtubule interacting protein							215.0	203.0	207.0					4																	6062187		2203	4300	6503	SO:0001819	synonymous_variant	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6062187G>A	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1608C>T	4.37:g.6062187G>A						JAKMIP1_uc010idb.1_Silent_p.I536I|JAKMIP1_uc010idc.1_Silent_p.I351I|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc011bwc.1_Silent_p.I371I|JAKMIP1_uc003giv.3_Silent_p.I536I|JAKMIP1_uc010ide.2_Silent_p.I536I	p.I536I	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN			11	1884	-			536			Mediates interaction with TYK2 and GABBR1.|Potential.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000282924.5	37	c.1608C>T	CCDS3385.1																																																																																				0.532	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720	
ABLIM2	84448	broad.mit.edu	37	4	8089918	8089918	+	Silent	SNP	C	C	T	rs367620415	byFrequency	TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr4:8089918C>T	ENST00000341937.5	-	4	496	c.432G>A	c.(430-432)gcG>gcA	p.A144A	ABLIM2_ENST00000428004.2_Silent_p.A144A|ABLIM2_ENST00000505872.1_Silent_p.A144A|ABLIM2_ENST00000407564.3_Silent_p.A144A|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000546334.1_Silent_p.A144A|ABLIM2_ENST00000361737.5_Silent_p.A144A|ABLIM2_ENST00000545242.1_Silent_p.A144A|ABLIM2_ENST00000361581.5_Silent_p.A144A|ABLIM2_ENST00000296372.8_Silent_p.A144A|ABLIM2_ENST00000447017.2_Silent_p.A144A	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	144					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GGGACAGGTGCGCGCTGCTGC	0.632													C|||	4	0.000798722	0.0023	0.0	5008	,	,		13118	0.001		0.0	False		,,,				2504	0.0					uc003gko.2																			0				pancreas(3)	3						c.(430-432)GCG>GCA		actin binding LIM protein family, member 2		C	,,,,,,	9,4097		0,9,2044	32.0	38.0	36.0		432,432,432,432,432,432,432	-5.3	0.0	4		36	0,8348		0,0,4174	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ABLIM2	NM_001130083.1,NM_001130084.1,NM_001130085.1,NM_001130086.1,NM_001130087.1,NM_001130088.1,NM_032432.4	,,,,,,	0,9,6218	TT,TC,CC		0.0,0.2192,0.0723	,,,,,,	144/646,144/612,144/573,144/560,144/532,144/471,144/522	8089918	9,12445	2053	4174	6227	SO:0001819	synonymous_variant	84448				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	g.chr4:8089918C>T	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.432G>A	4.37:g.8089918C>T						ABLIM2_uc003gkj.3_Silent_p.A144A|ABLIM2_uc003gkm.3_Silent_p.A144A|ABLIM2_uc003gkp.2_Silent_p.A144A|ABLIM2_uc003gkq.2_Silent_p.A144A|ABLIM2_uc003gkr.2_Silent_p.A144A|ABLIM2_uc003gks.3_Silent_p.A144A|ABLIM2_uc011bwl.1_Silent_p.A149A	p.A144A	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN			4	575	-			144					E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Silent	SNP	ENST00000341937.5	37	c.432G>A	CCDS47013.1																																																																																				0.632	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083	
SORBS2	8470	broad.mit.edu	37	4	186545046	186545046	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr4:186545046G>A	ENST00000284776.7	-	13	2034	c.1525C>T	c.(1525-1527)Cgc>Tgc	p.R509C	SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.R609C|SORBS2_ENST00000431808.1_Missense_Mutation_p.R509C|SORBS2_ENST00000418609.1_Missense_Mutation_p.R413C|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000449407.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	509					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TCGGAGATGCGTGTGGGCACC	0.572																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyl.2																			0				ovary(1)	1						c.(1525-1527)CGC>TGC		sorbin and SH3 domain containing 2 isoform 2							103.0	93.0	96.0					4																	186545046		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186545046G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1525C>T	4.37:g.186545046G>A	ENSP00000284776:p.Arg509Cys					SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.R609C|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.R413C|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.R623C|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	p.R509C	NM_021069	NP_066547	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	13	2383	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	509					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.1525C>T	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150777	0.57151	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.65178	-0.1;-0.1;-0.13;-0.14	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.74107	0.3673	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.993;0.995	T	0.75673	-0.3236	10	0.87932	D	0	-27.2808	12.9264	0.58262	0.0:0.0:0.7308:0.2692	.	413;609;509	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	C	509;509;413;609	ENSP00000284776:R509C;ENSP00000411764:R509C;ENSP00000397482:R413C;ENSP00000347852:R609C	ENSP00000284776:R509C	R	-	1	0	SORBS2	186782040	1.000000	0.71417	0.998000	0.56505	0.613000	0.37349	5.780000	0.68956	2.710000	0.92621	0.561000	0.74099	CGC		0.572	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603	
PIK3R1	5295	broad.mit.edu	37	5	67589601	67589602	+	In_Frame_Ins	INS	-	-	GTT			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr5:67589601_67589602insGTT	ENST00000521381.1	+	11	1980_1981	c.1364_1365insGTT	c.(1363-1368)cagttt>caGTTgttt	p.455_456QF>QLF	PIK3R1_ENST00000521657.1_In_Frame_Ins_p.455_456QF>QLF|PIK3R1_ENST00000336483.5_In_Frame_Ins_p.185_186QF>QLF|PIK3R1_ENST00000320694.8_In_Frame_Ins_p.155_156QF>QLF|PIK3R1_ENST00000274335.5_In_Frame_Ins_p.455_456QF>QLF|PIK3R1_ENST00000396611.1_In_Frame_Ins_p.455_456QF>QLF|PIK3R1_ENST00000523872.1_In_Frame_Ins_p.92_93QF>QLF	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	455					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.F456_R461del(1)|p.T454_D464del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TATAACACTCAGTTTCAAGAAA	0.287			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.2				Rec	yes		5	5q13.1	5295	Mis|F|O	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			gliobastoma|ovarian|colorectal		4	Deletion - In frame(2)|Whole gene deletion(1)|Unknown(1)	p.D434_Q475del(2)|p.T454_Q455>Q(1)|p.Y452_Q455>SGGSRIK(1)|p.?(1)|p.F456_R461del(1)|p.T454_D464del(1)	endometrium(2)|large_intestine(1)|lung(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101						c.(1363-1365)CAG>CAGTTG		phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)																																			SO:0001652	inframe_insertion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589601_67589602insGTT	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1365_1367dupGTT	5.37:g.67589602_67589604dupGTT	ENSP00000428056:p.Gln455_Phe456insLeu	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvb.2_In_Frame_Ins_p.455_456insL|PIK3R1_uc003jvc.2_In_Frame_Ins_p.155_156insL|PIK3R1_uc003jvd.2_In_Frame_Ins_p.185_186insL|PIK3R1_uc003jve.2_In_Frame_Ins_p.134_135insL|PIK3R1_uc011crb.1_In_Frame_Ins_p.125_126insL	p.455_456insL	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	11	1924_1925	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	455_456					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Ins	INS	ENST00000521381.1	37	c.1364_1365insGTT	CCDS3993.1																																																																																				0.287	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
TMEM174	134288	broad.mit.edu	37	5	72469563	72469563	+	Missense_Mutation	SNP	G	G	A	rs138671212		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr5:72469563G>A	ENST00000296776.5	+	1	542	c.493G>A	c.(493-495)Ggc>Agc	p.G165S	TMEM174_ENST00000511737.1_Intron	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	165						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		GAGCCCCTGCGGCCTCATAAC	0.547													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17809	0.0		0.0	False		,,,				2504	0.0					uc010izc.2																			0				ovary(1)	1						c.(493-495)GGC>AGC		transmembrane protein 174		G	SER/GLY	2,4404	4.2+/-10.8	0,2,2201	76.0	75.0	75.0		493	3.1	0.1	5	dbSNP_134	75	0,8600		0,0,4300	no	missense	TMEM174	NM_153217.2	56	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	165/244	72469563	2,13004	2203	4300	6503	SO:0001583	missense	134288					integral to membrane		g.chr5:72469563G>A	BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.493G>A	5.37:g.72469563G>A	ENSP00000296776:p.Gly165Ser						p.G165S	NM_153217	NP_694949	Q8WUU8	TM174_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)	1	541	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	165					B2RDA0|Q96N81	Missense_Mutation	SNP	ENST00000296776.5	37	c.493G>A	CCDS4018.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.14	1.847471	0.32606	4.54E-4	0.0	ENSG00000164325	ENST00000296776	.	.	.	5.82	3.1	0.35709	.	0.396532	0.26510	N	0.023974	T	0.31734	0.0806	L	0.34521	1.04	0.37616	D	0.921116	P	0.52463	0.953	B	0.40199	0.322	T	0.12993	-1.0526	9	0.25106	T	0.35	-16.8305	8.8622	0.35265	0.1285:0.0:0.7486:0.1229	.	165	Q8WUU8	TM174_HUMAN	S	165	.	ENSP00000296776:G165S	G	+	1	0	TMEM174	72505319	0.475000	0.25894	0.075000	0.20258	0.027000	0.11550	1.160000	0.31761	0.384000	0.24942	-0.126000	0.14955	GGC		0.547	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254036.1	NM_153217	
HTR4	3360	broad.mit.edu	37	5	147830788	147830788	+	Missense_Mutation	SNP	G	G	A	rs540745040		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr5:147830788G>A	ENST00000521530.1	-	6	1129	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	HTR4_ENST00000521735.1_3'UTR|HTR4_ENST00000354217.2_Missense_Mutation_p.P375L|HTR4_ENST00000314512.6_3'UTR	NM_001040169.2	NP_001035259.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	ATTGTGTATGGGCAGTTTCTC	0.468																																					GBM(120;370 1604 14007 17804 41573)	uc003lpj.1																			0				ovary(1)	1						c.(1123-1125)CCC>CTC		serotonin 5-HT4 receptor isoform a	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						443.0	378.0	400.0					5																	147830788		2203	4300	6503	SO:0001583	missense	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147830788G>A	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5299	protein-coding gene	gene with protein product		602164	"""5-hydroxytryptamine (serotonin) receptor 4"""			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000521530.1:c.1124C>T	5.37:g.147830788G>A	ENSP00000428320:p.Pro375Leu					HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_3'UTR	p.P375L	NM_001040169	NP_001035259	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	1288	-			Error:Variant_position_missing_in_Q13639_after_alignment					C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000521530.1	37	c.1124C>T	CCDS34270.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532244	0.45073	.	.	ENSG00000164270	ENST00000521530;ENST00000354217	T;T	0.70631	-0.5;-0.5	4.95	4.95	0.65309	.	.	.	.	.	T	0.61689	0.2367	.	.	.	0.80722	D	1	B	0.13145	0.007	B	0.21360	0.034	T	0.56263	-0.8008	8	0.33940	T	0.23	.	13.8916	0.63742	0.0:0.0:1.0:0.0	.	375	Q13639-2	.	L	375	ENSP00000428320:P375L;ENSP00000346156:P375L	ENSP00000346156:P375L	P	-	2	0	HTR4	147810981	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.881000	0.69706	2.729000	0.93468	0.650000	0.86243	CCC		0.468	HTR4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374174.3	NM_000870	
PDGFRB	5159	broad.mit.edu	37	5	149501489	149501489	+	Silent	SNP	G	G	T	rs368817770		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr5:149501489G>T	ENST00000261799.4	-	16	2767	c.2298C>A	c.(2296-2298)atC>atA	p.I766I		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	766	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGAGGACTCGATGTCTGCAT	0.532			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	uc003lro.2				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		0				central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.(2296-2298)ATC>ATA		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						349.0	263.0	292.0					5																	149501489		2203	4300	6503	SO:0001819	synonymous_variant	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149501489G>T	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2298C>A	5.37:g.149501489G>T						PDGFRB_uc010jhd.2_Silent_p.I605I	p.I766I	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		16	2767	-		all_hematologic(541;0.224)	766			Cytoplasmic (Potential).|Protein kinase.		B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	c.2298C>A	CCDS4303.1																																																																																				0.532	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609	
KIF13A	63971	broad.mit.edu	37	6	17805708	17805708	+	Nonsense_Mutation	SNP	C	C	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr6:17805708C>A	ENST00000259711.6	-	19	2407	c.2302G>T	c.(2302-2304)Gag>Tag	p.E768*	KIF13A_ENST00000378826.2_Nonsense_Mutation_p.E768*|KIF13A_ENST00000378816.5_Nonsense_Mutation_p.E768*|KIF13A_ENST00000378843.2_Nonsense_Mutation_p.E768*|KIF13A_ENST00000378814.5_Nonsense_Mutation_p.E768*	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	768					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCTTTTACCTCAGGAACTTTT	0.383																																						uc003ncg.3																			0				large_intestine(2)|ovary(2)	4						c.(2302-2304)GAG>TAG		kinesin family member 13A isoform a							115.0	108.0	110.0					6																	17805708		1837	4090	5927	SO:0001587	stop_gained	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17805708C>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.2302G>T	6.37:g.17805708C>A	ENSP00000259711:p.Glu768*					KIF13A_uc003ncf.2_Nonsense_Mutation_p.E768*|KIF13A_uc003nch.3_Nonsense_Mutation_p.E768*|KIF13A_uc003nci.3_Nonsense_Mutation_p.E768*	p.E768*	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		19	2407	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	768			Potential.		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Nonsense_Mutation	SNP	ENST00000259711.6	37	c.2302G>T	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	40	8.410438	0.98799	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	.	.	.	5.64	4.76	0.60689	.	0.097133	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	15.2585	0.73603	0.0:0.9315:0.0:0.0685	.	.	.	.	X	768	.	ENSP00000259711:E768X	E	-	1	0	KIF13A	17913687	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	3.779000	0.55379	1.483000	0.48342	0.650000	0.86243	GAG		0.383	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4		
MPP6	51678	broad.mit.edu	37	7	24727093	24727093	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:24727093C>T	ENST00000222644.5	+	12	1733	c.1483C>T	c.(1483-1485)Cgg>Tgg	p.R495W	MPP6_ENST00000409761.1_Missense_Mutation_p.R383W|MPP6_ENST00000396475.2_Missense_Mutation_p.R495W			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TGAAAGTGCACGGATTCAGAG	0.348																																						uc003swx.2																			0					0						c.(1483-1485)CGG>TGG		membrane protein, palmitoylated 6							105.0	110.0	108.0					7																	24727093		2203	4300	6503	SO:0001583	missense	51678				protein complex assembly		protein binding	g.chr7:24727093C>T	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.1483C>T	7.37:g.24727093C>T	ENSP00000222644:p.Arg495Trp					MPP6_uc003swy.2_Missense_Mutation_p.R495W|MPP6_uc010kur.2_Missense_Mutation_p.R163W	p.R495W	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN			13	1782	+			495			Guanylate kinase-like.		B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	37	c.1483C>T	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573196	0.65765	.	.	ENSG00000105926	ENST00000222644;ENST00000409761;ENST00000396475	T;T;T	0.44083	0.93;0.93;0.93	5.97	5.05	0.67936	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.51477	D	0.000095	T	0.65903	0.2736	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.65240	-0.6216	10	0.37606	T	0.19	.	16.0147	0.80427	0.1351:0.8649:0.0:0.0	.	495	Q9NZW5	MPP6_HUMAN	W	495;383;495	ENSP00000222644:R495W;ENSP00000386262:R383W;ENSP00000379737:R495W	ENSP00000222644:R495W	R	+	1	2	MPP6	24693618	0.994000	0.37717	0.998000	0.56505	0.992000	0.81027	3.176000	0.50863	2.829000	0.97493	0.650000	0.86243	CGG		0.348	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4		
AOAH	313	broad.mit.edu	37	7	36571798	36571798	+	Silent	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:36571798G>A	ENST00000258749.5	-	18	1779	c.1380C>T	c.(1378-1380)caC>caT	p.H460H	AOAH_ENST00000535891.1_Silent_p.H428H|AOAH_ENST00000431169.1_Silent_p.H460H|AOAH_ENST00000491444.1_5'UTR|AOAH_ENST00000538464.1_Silent_p.H182H	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	460					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)	p.H460H(2)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ACATCCAGCCGTGGCAGGGGC	0.512																																						uc003tfh.3																			2	Substitution - coding silent(2)		urinary_tract(1)|prostate(1)	skin(1)	1						c.(1378-1380)CAC>CAT		acyloxyacyl hydrolase precursor							106.0	101.0	103.0					7																	36571798		2203	4300	6503	SO:0001819	synonymous_variant	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36571798G>A	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.1380C>T	7.37:g.36571798G>A						AOAH_uc010kxf.2_Silent_p.H460H|AOAH_uc011kba.1_Silent_p.H428H	p.H460H	NM_001637	NP_001628	P28039	AOAH_HUMAN			18	1781	-			460					A4D1Y5|B7Z490|Q53F13	Silent	SNP	ENST00000258749.5	37	c.1380C>T	CCDS5448.1																																																																																				0.512	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637	
FAM183B	340286	broad.mit.edu	37	7	38725645	38725645	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:38725645G>A	ENST00000409072.3	-	0	895							Q6ZVS7	F183B_HUMAN	family with sequence similarity 183, member B											endometrium(1)|lung(7)	8						CTCTCTCGGCGTCCTCTTACC	0.622																																						uc011kbd.1																			0					0						c.(652-654)CGC>TGC		Homo sapiens cDNA FLJ42138 fis, clone TESTI2036684.							31.0	32.0	32.0					7																	38725645		2016	4162	6178			340286							g.chr7:38725645G>A	AK124132, BC045803		7p14.1	2008-08-11			ENSG00000164556	ENSG00000164556			34511	protein-coding gene	gene with protein product							Standard	NR_028347		Approved	LOC340286	uc011kbd.2	Q6ZVS7	OTTHUMG00000153653	ENST00000409072.3:c.-40C>T	7.37:g.38725645G>A							p.R218C	NR_028347						2	948	-								A4D1Y1	Missense_Mutation	SNP	ENST00000409072.3	37	c.652C>T																																																																																					0.622	FAM183B-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331972.1	NM_001105282	
VSTM2A	222008	broad.mit.edu	37	7	54617588	54617588	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:54617588A>G	ENST00000407838.3	+	4	765	c.359A>G	c.(358-360)aAg>aGg	p.K120R	VSTM2A_ENST00000404951.1_Missense_Mutation_p.K120R|VSTM2A_ENST00000302287.3_Missense_Mutation_p.K120R|VSTM2A_ENST00000402613.3_Missense_Mutation_p.K120R|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402026.2_Missense_Mutation_p.K119R	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	120	Ig-like V-type.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GTGAGGAAAAAGGATGAAGGC	0.443																																						uc010kzf.2																			0					0						c.(358-360)AAG>AGG		V-set and transmembrane domain containing 2							52.0	51.0	51.0					7																	54617588		2203	4300	6503	SO:0001583	missense	222008					extracellular region		g.chr7:54617588A>G	BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"""Immunoglobulin superfamily / V-set domain containing"""	28499	protein-coding gene	gene with protein product			"""V-set and transmembrane domain containing 2"""	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.359A>G	7.37:g.54617588A>G	ENSP00000384967:p.Lys120Arg					VSTM2A_uc010kze.2_Missense_Mutation_p.K120R|VSTM2A_uc003tqc.3_Missense_Mutation_p.K120R	p.K120R	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.0525)		4	764	+			120			Ig-like V-type.		A4D2E9|B5MC94	Missense_Mutation	SNP	ENST00000407838.3	37	c.359A>G	CCDS5512.2	.	.	.	.	.	.	.	.	.	.	A	17.89	3.499901	0.64298	.	.	ENSG00000170419	ENST00000302287;ENST00000407838;ENST00000404951;ENST00000402026;ENST00000402613	T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67	5.36	5.36	0.76844	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.207947	0.49916	D	0.000129	T	0.46946	0.1419	L	0.44542	1.39	0.27680	N	0.946483	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.83275	0.996;0.994;0.995	T	0.39542	-0.9609	10	0.52906	T	0.07	-35.585	13.3034	0.60338	1.0:0.0:0.0:0.0	.	120;120;120	Q8TAG5;Q8TAG5-2;B5MCX6	VTM2A_HUMAN;.;.	R	120;120;120;119;120	ENSP00000303108:K120R;ENSP00000384967:K120R;ENSP00000384701:K120R;ENSP00000385933:K119R;ENSP00000384103:K120R	ENSP00000303108:K120R	K	+	2	0	VSTM2A	54585082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.033000	0.57282	2.023000	0.59567	0.533000	0.62120	AAG		0.443	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318694.1	NM_182546	
CCT6A	908	broad.mit.edu	37	7	56127280	56127280	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:56127280G>A	ENST00000275603.4	+	9	1231	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N	CCT6A_ENST00000540286.1_Missense_Mutation_p.D307N|SNORA15_ENST00000384439.1_RNA|CCT6A_ENST00000335503.3_Missense_Mutation_p.D293N	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	338					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTCTTTTGACGACCTAAGTCC	0.398																																						uc003trl.1																			0				upper_aerodigestive_tract(1)	1						c.(1012-1014)GAC>AAC		chaperonin containing TCP1, subunit 6A isoform							115.0	101.0	106.0					7																	56127280		2203	4300	6503	SO:0001583	missense	908				'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding	g.chr7:56127280G>A	M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"""Heat Shock Proteins / Chaperonins"""	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.1012G>A	7.37:g.56127280G>A	ENSP00000275603:p.Asp338Asn					PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.D293N|CCT6A_uc011kcu.1_Missense_Mutation_p.D307N|SNORA15_uc003trn.1_5'Flank	p.D338N	NM_001762	NP_001753	P40227	TCPZ_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		9	1176	+	Breast(14;0.214)		338					A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	ENST00000275603.4	37	c.1012G>A	CCDS5523.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.782937	0.70222	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	T;T;T	0.79653	-1.29;-1.29;-1.29	5.53	5.53	0.82687	.	0.089739	0.85682	D	0.000000	D	0.84606	0.5509	M	0.85859	2.78	0.80722	D	1	B;B;B	0.28713	0.22;0.21;0.151	B;B;B	0.32289	0.093;0.114;0.143	D	0.84438	0.0581	10	0.66056	D	0.02	-10.1007	18.4476	0.90690	0.0:0.0:1.0:0.0	.	307;293;338	B4DPJ8;A6NCD2;P40227	.;.;TCPZ_HUMAN	N	338;293;307;196	ENSP00000275603:D338N;ENSP00000352019:D293N;ENSP00000438488:D307N	ENSP00000275603:D338N	D	+	1	0	CCT6A	56094774	1.000000	0.71417	0.997000	0.53966	0.799000	0.45148	8.908000	0.92640	2.585000	0.87301	0.585000	0.79938	GAC		0.398	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762	
SUMF2	25870	broad.mit.edu	37	7	56141892	56141892	+	Frame_Shift_Del	DEL	A	A	-			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:56141892delA	ENST00000413756.1	+	4	388	c.365delA	c.(364-366)gaafs	p.E122fs	SUMF2_ENST00000434526.2_Frame_Shift_Del_p.E141fs|SUMF2_ENST00000342190.6_Frame_Shift_Del_p.E141fs|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000275607.9_Frame_Shift_Del_p.E34fs|SUMF2_ENST00000437307.2_Frame_Shift_Del_p.E122fs|SUMF2_ENST00000395436.2_Intron			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	122					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTCCAGTGGAAAAGGCATTT	0.562											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003trv.2																			0				ovary(1)|skin(1)	2						c.(421-423)GAAfs		sulfatase modifying factor 2 isoform e							213.0	193.0	200.0					7																	56141892		2203	4300	6503	SO:0001589	frameshift_variant	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56141892delA	AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.365delA	7.37:g.56141892delA	ENSP00000406445:p.Glu122fs		OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1013	PSPH_uc003trj.2_Intron|SUMF2_uc011kcv.1_RNA|SUMF2_uc011kcw.1_Frame_Shift_Del_p.E141fs|SUMF2_uc011kcx.1_Frame_Shift_Del_p.E141fs|SUMF2_uc003trt.2_Frame_Shift_Del_p.E34fs|SUMF2_uc011kcy.1_Intron|SUMF2_uc011kcz.1_Intron|SUMF2_uc003tru.2_RNA|SUMF2_uc011kda.1_Intron|SUMF2_uc003trx.2_Intron	p.E141fs	NM_001130069	NP_001123541	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	453	+	Breast(14;0.214)		122					B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Frame_Shift_Del	DEL	ENST00000413756.1	37	c.422delA																																																																																					0.562	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000341457.2	NM_015411	
OCM2	4951	broad.mit.edu	37	7	97617753	97617753	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:97617753C>T	ENST00000257627.4	-	2	260	c.169G>A	c.(169-171)Ggg>Agg	p.G57R	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	57	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			lung(4)	4						TCCAGATACCCGCTCTGGTCG	0.537																																						uc003upc.2																			0					0						c.(169-171)GGG>AGG		oncomodulin-like							163.0	130.0	141.0					7																	97617753		2203	4300	6503	SO:0001583	missense	4951						calcium ion binding	g.chr7:97617753C>T	BC156841	CCDS5653.1	7q21.2	2014-04-01			ENSG00000135175	ENSG00000135175		"""EF-hand domain containing"""	34396	protein-coding gene	gene with protein product							Standard	NM_006188		Approved		uc003upc.3	P0CE71	OTTHUMG00000154162	ENST00000257627.4:c.169G>A	7.37:g.97617753C>T	ENSP00000257627:p.Gly57Arg						p.G57R	NM_006188	NP_006179	P0CE71	OCM2_HUMAN			2	169	-			57			EF-hand 1.|1 (Potential).		P32930|Q6ISI5|Q75MW0	Missense_Mutation	SNP	ENST00000257627.4	37	c.169G>A	CCDS5653.1	.	.	.	.	.	.	.	.	.	.	c	20.5	4.001415	0.74818	.	.	ENSG00000135175	ENST00000257627	T	0.81330	-1.48	3.98	3.98	0.46160	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92303	0.7558	H	0.95224	3.64	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.94588	0.7785	10	0.87932	D	0	-21.8956	14.8293	0.70135	0.0:1.0:0.0:0.0	.	57	P0CE71	OCM2_HUMAN	R	57	ENSP00000257627:G57R	ENSP00000257627:G57R	G	-	1	0	OCM2	97455689	1.000000	0.71417	0.975000	0.42487	0.853000	0.48598	5.432000	0.66514	2.074000	0.62210	0.472000	0.43445	GGG		0.537	OCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334188.1	NM_006188	
GPC2	221914	broad.mit.edu	37	7	99773980	99773980	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:99773980G>A	ENST00000292377.2	-	2	342	c.175C>T	c.(175-177)Ctc>Ttc	p.L59F	GPC2_ENST00000471050.1_5'Flank|STAG3_ENST00000317296.5_5'Flank|STAG3_ENST00000394018.2_5'Flank|STAG3_ENST00000426455.1_5'Flank	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	59					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGACCCGGAGGTGCTCACCT	0.567																																						uc003utv.2																			0				breast(1)|pancreas(1)	2						c.(175-177)CTC>TTC		glypican 2 precursor							71.0	60.0	64.0					7																	99773980		2203	4300	6503	SO:0001583	missense	221914					anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr7:99773980G>A	BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"""Proteoglycans / Cell Surface : Glypicans"""	4450	protein-coding gene	gene with protein product	"""glypican proteoglycan 2, cerebroglycan proteoglycan"""		"""glypican 2 (cerebroglycan)"""			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.175C>T	7.37:g.99773980G>A	ENSP00000292377:p.Leu59Phe					GPC2_uc010lgr.2_RNA|GPC2_uc003utw.1_Missense_Mutation_p.L59F|STAG3_uc010lgs.1_5'Flank|STAG3_uc003utx.1_5'Flank|STAG3_uc011kjk.1_5'Flank	p.L59F	NM_152742	NP_689955	Q8N158	GPC2_HUMAN			2	343	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		59					A4D2A7	Missense_Mutation	SNP	ENST00000292377.2	37	c.175C>T	CCDS5689.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020790	0.75275	.	.	ENSG00000213420	ENST00000292377	T	0.63913	-0.07	4.26	4.26	0.50523	.	0.000000	0.64402	D	0.000002	T	0.78464	0.4287	M	0.78637	2.42	0.53005	D	0.999963	D	0.89917	1.0	D	0.91635	0.999	T	0.81733	-0.0798	10	0.72032	D	0.01	-15.3237	14.2078	0.65746	0.0:0.0:1.0:0.0	.	59	Q8N158	GPC2_HUMAN	F	59	ENSP00000292377:L59F	ENSP00000292377:L59F	L	-	1	0	GPC2	99611916	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.930000	0.70104	2.212000	0.71576	0.491000	0.48974	CTC		0.567	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337556.1	NM_152742	
PILRB	29990	broad.mit.edu	37	7	99955938	99955938	+	Silent	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:99955938C>T	ENST00000452089.1	+	6	1072	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	PILRB_ENST00000444073.1_Silent_p.L5L|PILRB_ENST00000610247.1_Silent_p.L5L|PILRB_ENST00000609309.1_Silent_p.L5L|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000448382.1_Silent_p.L127L			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	5					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGTCGGCCCCTGCTGCTGCC	0.667																																						uc003uuk.2																			0					0						c.(13-15)CTG>TTG		paired immunoglobulin-like type 2 receptor beta							55.0	67.0	63.0					7																	99955938		2203	4300	6503	SO:0001819	synonymous_variant	29990				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity	g.chr7:99955938C>T	AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.13C>T	7.37:g.99955938C>T						PILRB_uc003uul.2_Silent_p.L5L|PILRB_uc003uum.1_RNA|PILRB_uc003uun.2_Silent_p.L5L	p.L5L	NM_013440	NP_038468	Q9UKJ0	PILRB_HUMAN			15	2509	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		5					Q69YF9|Q9HBS0	Silent	SNP	ENST00000452089.1	37	c.13C>T	CCDS43622.1																																																																																				0.667	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339923.2	NM_178238	
WDR86	349136	broad.mit.edu	37	7	151097266	151097266	+	Silent	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:151097266G>A	ENST00000334493.6	-	2	655	c.225C>T	c.(223-225)gcC>gcT	p.A75A	WDR86_ENST00000477459.1_5'UTR|WDR86_ENST00000469830.2_Silent_p.A75A	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	75										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGTGCAGTCGGCGCTGCATG	0.607																																						uc003wkb.2																			0					0						c.(223-225)GCC>GCT		WD repeat domain 86							40.0	43.0	42.0					7																	151097266		2182	4268	6450	SO:0001819	synonymous_variant	349136							g.chr7:151097266G>A	AK125347	CCDS5925.2, CCDS64805.1, CCDS64806.1, CCDS75680.1	7q36.1	2013-01-09			ENSG00000187260	ENSG00000187260		"""WD repeat domain containing"""	28020	protein-coding gene	gene with protein product						12477932	Standard	NM_198285		Approved		uc003wkb.2	Q86TI4	OTTHUMG00000150764	ENST00000334493.6:c.225C>T	7.37:g.151097266G>A						WDR86_uc003wka.2_Silent_p.A33A|WDR86_uc011kvk.1_Silent_p.A75A|WDR86_uc003wkc.2_5'UTR	p.A75A	NM_198285	NP_938026	Q86TI4	WDR86_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	674	-			75			WD 2.		B4DJF1|C9JAJ5|C9JXE3|Q3KNT1|Q6ZUS8	Silent	SNP	ENST00000334493.6	37	c.225C>T	CCDS5925.2																																																																																				0.607	WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319999.3	NM_198285	
PIWIL2	55124	broad.mit.edu	37	8	22211836	22211836	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr8:22211836A>G	ENST00000454009.2	+	22	3219	c.2710A>G	c.(2710-2712)Acg>Gcg	p.T904A	PIWIL2_ENST00000356766.6_Missense_Mutation_p.T904A|PIWIL2_ENST00000521356.1_Intron	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	904	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TGGCATTCCTACGCATTATGT	0.453																																						uc003xbn.2																			0				skin(1)	1						c.(2710-2712)ACG>GCG		piwi-like 2							202.0	164.0	177.0					8																	22211836		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22211836A>G	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2710A>G	8.37:g.22211836A>G	ENSP00000406956:p.Thr904Ala					PIWIL2_uc011kzf.1_Intron|PIWIL2_uc010ltv.2_Missense_Mutation_p.T904A|PIWIL2_uc003xbo.2_Missense_Mutation_p.T58A	p.T904A	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	22	2858	+			904			Piwi.		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.2710A>G	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.341453	0.81911	.	.	ENSG00000197181	ENST00000356766;ENST00000454009	T;T	0.16324	2.35;2.35	4.53	4.53	0.55603	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.36880	0.0983	M	0.64080	1.96	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.08146	-1.0736	10	0.45353	T	0.12	-22.0457	13.1412	0.59436	1.0:0.0:0.0:0.0	.	904	Q8TC59	PIWL2_HUMAN	A	904	ENSP00000349208:T904A;ENSP00000406956:T904A	ENSP00000349208:T904A	T	+	1	0	PIWIL2	22267781	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.049000	0.93837	1.819000	0.53055	0.459000	0.35465	ACG		0.453	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1		
TUBBP1	92755	broad.mit.edu	37	8	30209921	30209921	+	RNA	SNP	T	T	C			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr8:30209921T>C	ENST00000518096.1	+	0	533									tubulin, beta pseudogene 1																		CTGCAGGGCTTCCAGCTCACC	0.572																																						uc003xhz.2																			0											c.(397-399)TTC>TCC		SubName: Full=Class IVb beta tubulin;																																						0							g.chr8:30209921T>C	J00317		8p12	2012-10-16	2005-11-15		ENSG00000127589	ENSG00000127589			12414	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 1"""			7070533	Standard	NG_001206		Approved				OTTHUMG00000163834		8.37:g.30209921T>C							p.F133S							1	403	+									Missense_Mutation	SNP	ENST00000518096.1	37	c.398T>C																																																																																					0.572	TUBBP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375880.1	NG_001206	
COL14A1	7373	broad.mit.edu	37	8	121160106	121160106	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr8:121160106C>T	ENST00000297848.3	+	2	295	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W	COL14A1_ENST00000537875.1_Missense_Mutation_p.R9W|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.R9W|COL14A1_ENST00000247781.3_Missense_Mutation_p.R9W	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCGCAAGATGCGGTACTGGTT	0.423																																						uc003yox.2																			0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(25-27)CGG>TGG		collagen, type XIV, alpha 1 precursor							117.0	109.0	111.0					8																	121160106		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121160106C>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.25C>T	8.37:g.121160106C>T	ENSP00000297848:p.Arg9Trp						p.R9W	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		2	290	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		9						Missense_Mutation	SNP	ENST00000297848.3	37	c.25C>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078502	0.36662	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781	T;D;D;D	0.88046	0.43;-2.12;-2.14;-2.33	5.92	3.82	0.43975	.	0.740524	0.12404	N	0.471904	T	0.76572	0.4006	N	0.14661	0.345	0.29207	N	0.874848	B	0.06786	0.001	B	0.01281	0.0	T	0.70475	-0.4861	10	0.62326	D	0.03	.	8.9857	0.35992	0.0:0.8086:0.0:0.1914	.	9	Q05707	COEA1_HUMAN	W	9	ENSP00000443974:R9W;ENSP00000311809:R9W;ENSP00000297848:R9W;ENSP00000247781:R9W	ENSP00000247781:R9W	R	+	1	2	COL14A1	121229287	0.994000	0.37717	0.994000	0.49952	0.587000	0.36485	0.629000	0.24538	1.521000	0.48983	0.655000	0.94253	CGG		0.423	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
PTPRD	5789	broad.mit.edu	37	9	8341178	8341178	+	Missense_Mutation	SNP	G	G	C	rs199674759		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr9:8341178G>C	ENST00000381196.4	-	38	5581	c.5038C>G	c.(5038-5040)Cca>Gca	p.P1680A	PTPRD_ENST00000358503.5_Missense_Mutation_p.P1658A|PTPRD_ENST00000355233.5_Missense_Mutation_p.P1274A|PTPRD_ENST00000486161.1_Missense_Mutation_p.P1273A|PTPRD_ENST00000397617.3_Missense_Mutation_p.P1273A|PTPRD_ENST00000540109.1_Missense_Mutation_p.P1680A|PTPRD_ENST00000356435.5_Missense_Mutation_p.P1680A|PTPRD_ENST00000397606.3_Missense_Mutation_p.P1273A|PTPRD_ENST00000397611.3_Missense_Mutation_p.P1270A|PTPRD_ENST00000537002.1_Missense_Mutation_p.P1270A|PTPRD_ENST00000360074.4_Missense_Mutation_p.P1667A	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1680	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GATTCATATGGCATAATATTA	0.393										TSP Lung(15;0.13)																												uc003zkk.2																			0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(5038-5040)CCA>GCA		protein tyrosine phosphatase, receptor type, D							197.0	206.0	203.0					9																	8341178		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8341178G>C	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5038C>G	9.37:g.8341178G>C	ENSP00000370593:p.Pro1680Ala	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.P1274A|PTPRD_uc003zkq.2_Missense_Mutation_p.P1273A|PTPRD_uc003zkr.2_Missense_Mutation_p.P1264A|PTPRD_uc003zks.2_Missense_Mutation_p.P1273A|PTPRD_uc003zkl.2_Missense_Mutation_p.P1671A|PTPRD_uc003zkm.2_Missense_Mutation_p.P1667A|PTPRD_uc003zkn.2_Missense_Mutation_p.P1269A|PTPRD_uc003zko.2_Missense_Mutation_p.P1270A	p.P1680A	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	40	5749	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1680			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.5038C>G	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249889	0.80024	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.42743	0.1216	M	0.77313	2.365	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.996;0.996;0.996;0.996;1.0;0.995;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.969;0.969;0.969;0.969;1.0;0.948;1.0;0.998;1.0	T	0.05451	-1.0884	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1273;1264;1273;1274;1270;1270;1667;1680;1680	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	A	1680;1680;1667;1658;1274;1273;1270;1270;1151;1680;1273;1273	ENSP00000370593:P1680A;ENSP00000348812:P1680A;ENSP00000353187:P1667A;ENSP00000351293:P1658A;ENSP00000347373:P1274A;ENSP00000380741:P1273A;ENSP00000380735:P1270A;ENSP00000440515:P1270A;ENSP00000438164:P1680A;ENSP00000417093:P1273A;ENSP00000380731:P1273A	.	P	-	1	0	PTPRD	8331178	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.885000	0.99019	0.655000	0.94253	CCA		0.393	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
PTPRD	5789	broad.mit.edu	37	9	8341203	8341203	+	Missense_Mutation	SNP	G	G	C			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr9:8341203G>C	ENST00000381196.4	-	38	5556	c.5013C>G	c.(5011-5013)ttC>ttG	p.F1671L	PTPRD_ENST00000358503.5_Missense_Mutation_p.F1649L|PTPRD_ENST00000355233.5_Missense_Mutation_p.F1265L|PTPRD_ENST00000486161.1_Missense_Mutation_p.F1264L|PTPRD_ENST00000397617.3_Missense_Mutation_p.F1264L|PTPRD_ENST00000540109.1_Missense_Mutation_p.F1671L|PTPRD_ENST00000356435.5_Missense_Mutation_p.F1671L|PTPRD_ENST00000397606.3_Missense_Mutation_p.F1264L|PTPRD_ENST00000397611.3_Missense_Mutation_p.F1261L|PTPRD_ENST00000537002.1_Missense_Mutation_p.F1261L|PTPRD_ENST00000360074.4_Missense_Mutation_p.F1658L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1671	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGCGATTTTTGAATTTATTAC	0.388										TSP Lung(15;0.13)																												uc003zkk.2																			0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(5011-5013)TTC>TTG		protein tyrosine phosphatase, receptor type, D							185.0	202.0	196.0					9																	8341203		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8341203G>C	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5013C>G	9.37:g.8341203G>C	ENSP00000370593:p.Phe1671Leu	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.F1265L|PTPRD_uc003zkq.2_Missense_Mutation_p.F1264L|PTPRD_uc003zkr.2_Missense_Mutation_p.F1255L|PTPRD_uc003zks.2_Missense_Mutation_p.F1264L|PTPRD_uc003zkl.2_Missense_Mutation_p.F1662L|PTPRD_uc003zkm.2_Missense_Mutation_p.F1658L|PTPRD_uc003zkn.2_Missense_Mutation_p.F1260L|PTPRD_uc003zko.2_Missense_Mutation_p.F1261L	p.F1671L	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	40	5724	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1671			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.5013C>G	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662640	0.47572	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	6.07	5.18	0.71444	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.046152	0.85682	D	0.000000	T	0.66519	0.2797	N	0.11284	0.12	0.53688	D	0.999972	B;B;B;B;B;B;B;B;B	0.29646	0.011;0.011;0.011;0.011;0.078;0.009;0.253;0.004;0.04	B;B;B;B;B;B;B;B;B	0.26770	0.003;0.003;0.003;0.003;0.023;0.002;0.073;0.007;0.019	T	0.63571	-0.6607	9	.	.	.	.	12.4447	0.55645	0.1342:0.0:0.8658:0.0	.	1264;1255;1264;1265;1261;1261;1658;1671;1671	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	L	1671;1671;1658;1649;1265;1264;1261;1261;1142;1671;1264;1264	ENSP00000370593:F1671L;ENSP00000348812:F1671L;ENSP00000353187:F1658L;ENSP00000351293:F1649L;ENSP00000347373:F1265L;ENSP00000380741:F1264L;ENSP00000380735:F1261L;ENSP00000440515:F1261L;ENSP00000438164:F1671L;ENSP00000417093:F1264L;ENSP00000380731:F1264L	.	F	-	3	2	PTPRD	8331203	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.744000	0.68664	1.581000	0.49865	0.655000	0.94253	TTC		0.388	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
TRAF1	7185	broad.mit.edu	37	9	123673632	123673632	+	Missense_Mutation	SNP	C	C	T	rs149705933		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr9:123673632C>T	ENST00000373887.3	-	6	3310	c.865G>A	c.(865-867)Gtc>Atc	p.V289I	TRAF1_ENST00000540010.1_Missense_Mutation_p.V289I|TRAF1_ENST00000546084.1_Missense_Mutation_p.V167I	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	289	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V289I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						AAGAGGCTGACGGTCCTGCCA	0.612													c|||	1	0.000199681	0.0008	0.0	5008	,	,		20798	0.0		0.0	False		,,,				2504	0.0					uc004bku.1																			1	Substitution - Missense(1)	p.V289I(1)	ovary(1)	skin(2)|ovary(1)	3						c.(865-867)GTC>ATC		TNF receptor-associated factor 1		T	ILE/VAL,ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	37.0	33.0	35.0		865,499,865	-2.0	0.6	9	dbSNP_134	35	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TRAF1	NM_001190945.1,NM_001190947.1,NM_005658.4	29,29,29	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	possibly-damaging,possibly-damaging,possibly-damaging	289/417,167/295,289/417	123673632	3,13003	2203	4300	6503	SO:0001583	missense	7185				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding	g.chr9:123673632C>T	AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.865G>A	9.37:g.123673632C>T	ENSP00000362994:p.Val289Ile					TRAF1_uc011lyg.1_Missense_Mutation_p.V167I|TRAF1_uc010mvl.1_Missense_Mutation_p.V289I	p.V289I	NM_005658	NP_005649	Q13077	TRAF1_HUMAN			6	1437	-			289			MATH.		B4DJ77|Q658U1|Q8NF13	Missense_Mutation	SNP	ENST00000373887.3	37	c.865G>A	CCDS6825.1	.	.	.	.	.	.	.	.	.	.	c	7.976	0.750141	0.15778	4.54E-4	1.16E-4	ENSG00000056558	ENST00000373887;ENST00000540010;ENST00000546084	T;T;T	0.43688	0.94;0.94;0.94	4.64	-2.01	0.07410	TRAF-type (1);TRAF-like (1);MATH (3);	0.644298	0.15227	N	0.273622	T	0.19886	0.0478	N	0.11927	0.2	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.27739	-1.0065	10	0.14656	T	0.56	-16.2109	10.0395	0.42148	0.0:0.4697:0.0:0.5303	.	289	Q13077	TRAF1_HUMAN	I	289;289;167	ENSP00000362994:V289I;ENSP00000443183:V289I;ENSP00000438583:V167I	ENSP00000362994:V289I	V	-	1	0	TRAF1	122713453	0.000000	0.05858	0.623000	0.29173	0.905000	0.53344	-1.063000	0.03465	-0.333000	0.08476	-0.213000	0.12676	GTC		0.612	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053843.1	NM_005658	
SLC2A8	29988	broad.mit.edu	37	9	130165020	130165020	+	Frame_Shift_Del	DEL	C	C	-			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr9:130165020delC	ENST00000373371.3	+	5	800	c.711delC	c.(709-711)atcfs	p.I237fs	SLC2A8_ENST00000373352.1_Intron|SLC2A8_ENST00000373360.3_Frame_Shift_Del_p.I237fs	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	237					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						ACCCCCCCATCGGGGCTGAGC	0.677																																						uc004bqu.2																			0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(709-711)ATCfs		solute carrier family 2 (facilitated glucose							9.0	11.0	10.0					9																	130165020		2147	4217	6364	SO:0001589	frameshift_variant	29988					cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity	g.chr9:130165020delC	AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"""Solute carriers"""	13812	protein-coding gene	gene with protein product		605245	"""solute carrier family 2 (facilitated glucose transporter) member 8"""			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.711delC	9.37:g.130165020delC	ENSP00000362469:p.Ile237fs					SLC2A8_uc010mxj.2_Frame_Shift_Del_p.I237fs|SLC2A8_uc004bqv.2_5'Flank	p.I237fs	NM_014580	NP_055395	Q9NY64	GTR8_HUMAN			5	756	+			237			Cytoplasmic (Potential).		Q8WUZ9|Q9NSC4	Frame_Shift_Del	DEL	ENST00000373371.3	37	c.711delC	CCDS6870.1																																																																																				0.677	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580	
SATL1	340562	broad.mit.edu	37	X	84363108	84363108	+	Silent	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chrX:84363108C>T	ENST00000395409.3	-	1	866	c.306G>A	c.(304-306)gtG>gtA	p.V102V	SATL1_ENST00000332921.5_Silent_p.V102V|SATL1_ENST00000509231.1_Silent_p.V289V			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	102	Gln-rich.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GTTTCATGTCCACTTGGTTCA	0.463																																						uc011mqx.1																			0				breast(2)	2						c.(865-867)GTG>GTA		spermidine/spermine N1-acetyl transferase-like 1							225.0	174.0	191.0					X																	84363108		2203	4300	6503	SO:0001819	synonymous_variant	340562						N-acetyltransferase activity	g.chrX:84363108C>T	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.306G>A	X.37:g.84363108C>T						SATL1_uc004een.2_Silent_p.V289V	p.V289V	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN			1	867	-			102			Gln-rich.		A0AVK7|E9PB72|Q5H8V9	Silent	SNP	ENST00000395409.3	37	c.867G>A																																																																																					0.463	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339	
