#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
YOD1	55432	broad.mit.edu	37	1	207224090	207224090	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr1:207224090C>T	ENST00000315927.4	-	1	332	c.286G>A	c.(286-288)Gag>Aag	p.E96K	PFKFB2_ENST00000411990.2_Intron|PFKFB2_ENST00000367079.2_5'Flank|YOD1_ENST00000391927.1_Missense_Mutation_p.E52K|PFKFB2_ENST00000367080.3_5'Flank|YOD1_ENST00000367084.1_Missense_Mutation_p.E52K	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	96	UBX-like.				cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					TCCAGGCACTCGGGAGGGTAT	0.632											OREG0014189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hfe.1																			0				lung(1)	1						c.(286-288)GAG>AAG		YOD1 OTU deubiquinating enzyme 1 homolog							49.0	56.0	54.0					1																	207224090		2203	4300	6503	SO:0001583	missense	55432				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding	g.chr1:207224090C>T		CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"""OTU domain containing"""	25035	protein-coding gene	gene with protein product		612023	"""YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)"", ""YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"""				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.286G>A	1.37:g.207224090C>T	ENSP00000326813:p.Glu96Lys		OREG0014189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2165	PFKFB2_uc010psc.1_Intron|YOD1_uc001hff.1_Missense_Mutation_p.E52K	p.E96K	NM_018566	NP_061036	Q5VVQ6	OTU1_HUMAN			1	333	-	Prostate(682;0.19)		96			UBX-like.		B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Missense_Mutation	SNP	ENST00000315927.4	37	c.286G>A	CCDS31002.1	.	.	.	.	.	.	.	.	.	.	C	9.950	1.219996	0.22373	.	.	ENSG00000180667	ENST00000367084;ENST00000315927;ENST00000391927	.	.	.	5.82	5.82	0.92795	.	0.217713	0.46758	D	0.000279	T	0.18882	0.0453	N	0.05012	-0.13	0.80722	D	1	B;P	0.45569	0.004;0.861	B;B	0.29353	0.002;0.101	T	0.38243	-0.9670	9	0.02654	T	1	-6.8942	15.1092	0.72343	0.0:0.858:0.142:0.0	.	52;96	Q5VVQ6-2;Q5VVQ6	.;OTU1_HUMAN	K	52;96;52	.	ENSP00000326813:E96K	E	-	1	0	YOD1	205290713	0.998000	0.40836	0.992000	0.48379	0.943000	0.58893	4.185000	0.58330	2.752000	0.94435	0.655000	0.94253	GAG		0.632	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087837.1	NM_018566	
SLC35F3	148641	broad.mit.edu	37	1	234455909	234455909	+	Missense_Mutation	SNP	G	G	A	rs149597390		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr1:234455909G>A	ENST00000366617.3	+	6	1234	c.1006G>A	c.(1006-1008)Gtc>Atc	p.V336I	SLC35F3_ENST00000366618.3_Missense_Mutation_p.V405I			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	336					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)		p.V405I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TCTTGGAATCGTCCTCAGCAT	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		25262	0.0		0.0	False		,,,				2504	0.001					uc001hwa.1																			1	Substitution - Missense(1)		breast(1)	ovary(2)	2						c.(1006-1008)GTC>ATC		solute carrier family 35, member F3		G	ILE/VAL	0,4406		0,0,2203	179.0	163.0	168.0		1213	5.7	1.0	1	dbSNP_134	168	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC35F3	NM_173508.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	405/491	234455909	1,13005	2203	4300	6503	SO:0001583	missense	148641				transport	integral to membrane		g.chr1:234455909G>A		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.1006G>A	1.37:g.234455909G>A	ENSP00000355576:p.Val336Ile					SLC35F3_uc001hvy.1_Missense_Mutation_p.V405I	p.V336I	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		6	1234	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	336			Helical; (Potential).		Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366617.3	37	c.1006G>A		.	.	.	.	.	.	.	.	.	.	G	18.40	3.616323	0.66672	0.0	1.16E-4	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.66099	-0.19;-0.19	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.66036	0.2749	L	0.39326	1.205	0.54753	D	0.999983	D;D	0.64830	0.99;0.994	P;P	0.58780	0.635;0.845	T	0.58429	-0.7638	10	0.02654	T	1	-40.7856	19.9043	0.97001	0.0:0.0:1.0:0.0	.	336;405	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	I	405;336	ENSP00000355577:V405I;ENSP00000355576:V336I	ENSP00000355576:V336I	V	+	1	0	SLC35F3	232522532	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.067000	0.64357	2.711000	0.92665	0.555000	0.69702	GTC		0.393	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508	
OR2W5	441932	broad.mit.edu	37	1	247654793	247654793	+	RNA	SNP	C	C	T	rs201534844		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr1:247654793C>T	ENST00000522351.1	+	0	424							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTCCCATGACCGCTATGTGGC	0.587																																						uc001icz.1																			0				ovary(1)|breast(1)|skin(1)	3						c.(364-366)CGC>TGC		olfactory receptor, family 2, subfamily W,		C	CYS/ARG	0,4406		0,0,2203	99.0	88.0	92.0		364	2.7	1.0	1		92	1,8599	1.2+/-3.3	0,1,4299	yes	missense	OR2W5	NM_001004698.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	122/321	247654793	1,13005	2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247654793C>T			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247654793C>T							p.R122C	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	364	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	122					B9EH85	Missense_Mutation	SNP	ENST00000522351.1	37	c.364C>T																																																																																					0.587	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698	
TAF3	83860	broad.mit.edu	37	10	8007617	8007625	+	In_Frame_Del	DEL	AGAAGGAGA	AGAAGGAGA	-			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr10:8007617_8007625delAGAAGGAGA	ENST00000344293.5	+	3	2350_2358	c.2144_2152delAGAAGGAGA	c.(2143-2154)gagaaggagaag>gag	p.KEK719del		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	719	Lys-rich.				maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						aaggaaaaagagaaggagaagaaggagaa	0.383																																						uc010qbd.1																			0				ovary(1)	1						c.(2143-2154)GAGAAGGAGAAG>GAG		RNA polymerase II transcription factor TAFII140																																				SO:0001651	inframe_deletion	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8007617_8007625delAGAAGGAGA	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.2144_2152delAGAAGGAGA	10.37:g.8007626_8007634delAGAAGGAGA	ENSP00000340271:p.Lys719_Lys721del						p.KEK719del	NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN			3	2144_2152	+			719_721			Lys-rich.		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	In_Frame_Del	DEL	ENST00000344293.5	37	c.2144_2152delAGAAGGAGA	CCDS41487.1																																																																																				0.383	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923	
FAM13C	220965	broad.mit.edu	37	10	61029825	61029825	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr10:61029825C>T	ENST00000373868.2	-	7	724	c.637G>A	c.(637-639)Gca>Aca	p.A213T	FAM13C_ENST00000468840.2_Missense_Mutation_p.A130T|FAM13C_ENST00000373867.3_Missense_Mutation_p.A130T|FAM13C_ENST00000435852.2_Missense_Mutation_p.A213T|FAM13C_ENST00000419214.2_Missense_Mutation_p.A213T|FAM13C_ENST00000442566.3_Missense_Mutation_p.A234T|FAM13C_ENST00000422313.2_Missense_Mutation_p.A213T|FAM13C_ENST00000277705.6_Missense_Mutation_p.A234T	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	213										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCTTCTGGTGCACTGTCGGCC	0.532																																						uc001jkn.2																			0				ovary(2)	2						c.(637-639)GCA>ACA		hypothetical protein LOC220965 isoform 1							107.0	95.0	99.0					10																	61029825		2203	4300	6503	SO:0001583	missense	220965							g.chr10:61029825C>T	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.637G>A	10.37:g.61029825C>T	ENSP00000362975:p.Ala213Thr					FAM13C_uc001jko.2_Missense_Mutation_p.A213T|FAM13C_uc010qid.1_Missense_Mutation_p.A130T|FAM13C_uc010qie.1_Missense_Mutation_p.A130T|FAM13C_uc010qif.1_Missense_Mutation_p.A235T|FAM13C_uc001jkp.2_Missense_Mutation_p.A130T	p.A213T	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			8	771	-			213					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.637G>A	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	C	1.167	-0.642074	0.03531	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313	T;T;T;T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;0.96;-1.16;-1.16;-1.16	5.53	-2.43	0.06522	.	0.699211	0.12940	N	0.426659	T	0.51329	0.1668	N	0.03177	-0.4	0.09310	N	1	B;B;B;B;B	0.09022	0.002;0.0;0.001;0.0;0.001	B;B;B;B;B	0.11329	0.006;0.001;0.003;0.001;0.004	T	0.33854	-0.9852	10	0.15952	T	0.53	1.4619	12.4184	0.55506	0.0:0.3819:0.0:0.618	.	213;130;213;213;213	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	T	130;213;234;234;213;130;213;213	ENSP00000362974:A130T;ENSP00000362975:A213T;ENSP00000395661:A234T;ENSP00000277705:A234T;ENSP00000391993:A213T;ENSP00000423896:A130T;ENSP00000392302:A213T;ENSP00000400241:A213T	ENSP00000277705:A234T	A	-	1	0	FAM13C	60699831	0.001000	0.12720	0.000000	0.03702	0.315000	0.28087	0.063000	0.14410	-0.874000	0.04027	-0.768000	0.03414	GCA		0.532	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2		
RTKN2	219790	broad.mit.edu	37	10	63957685	63957685	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr10:63957685C>G	ENST00000373789.3	-	12	1908	c.1812G>C	c.(1810-1812)tgG>tgC	p.W604C	RTKN2_ENST00000315289.2_Intron|RTKN2_ENST00000395265.1_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	604					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GTGCCTGCAGCCATGATCTAG	0.378																																						uc001jlw.2																			0					0						c.(1810-1812)TGG>TGC		rhotekin 2							56.0	54.0	55.0					10																	63957685		2203	4300	6503	SO:0001583	missense	219790				signal transduction	intracellular		g.chr10:63957685C>G	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1812G>C	10.37:g.63957685C>G	ENSP00000362894:p.Trp604Cys					RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.2_Missense_Mutation_p.W258C	p.W604C	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN			12	1909	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		604					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	ENST00000373789.3	37	c.1812G>C	CCDS7263.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263764	0.39995	.	.	ENSG00000182010	ENST00000373789	T	0.41065	1.01	5.61	5.61	0.85477	.	0.065552	0.64402	D	0.000003	T	0.59142	0.2172	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	P	0.61328	0.887	T	0.61436	-0.7063	10	0.87932	D	0	-7.3012	15.2638	0.73646	0.1408:0.8592:0.0:0.0	.	604	Q8IZC4	RTKN2_HUMAN	C	604	ENSP00000362894:W604C	ENSP00000362894:W604C	W	-	3	0	RTKN2	63627691	1.000000	0.71417	0.997000	0.53966	0.781000	0.44180	4.282000	0.58971	2.657000	0.90304	0.655000	0.94253	TGG		0.378	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307	
OR51A2	401667	broad.mit.edu	37	11	4976153	4976153	+	Missense_Mutation	SNP	C	C	T	rs61744535		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr11:4976153C>T	ENST00000380371.1	-	1	790	c.791G>A	c.(790-792)cGc>cAc	p.R264H	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R264H(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCGGCAAAGCGGTGGACAAC	0.453																																						uc010qyt.1																			1	Substitution - Missense(1)		large_intestine(1)		0						c.(790-792)CGC>CAC		olfactory receptor, family 51, subfamily A,							97.0	77.0	84.0					11																	4976153		2088	3861	5949	SO:0001583	missense	401667				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4976153C>T	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"""GPCR / Class A : Olfactory receptors"""	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.791G>A	11.37:g.4976153C>T	ENSP00000369729:p.Arg264His						p.R264H	NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	791	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	264			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000380371.1	37	c.791G>A	CCDS31368.1	.	.	.	.	.	.	.	.	.	.	-	11.66	1.703728	0.30232	.	.	ENSG00000205496	ENST00000380371	T	0.37235	1.21	3.26	0.192	0.15134	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.42720	0.1215	M	0.88377	2.95	0.09310	N	1	P	0.35124	0.485	B	0.36418	0.224	T	0.42120	-0.9470	9	0.72032	D	0.01	.	6.5172	0.22254	0.0:0.6676:0.0:0.3324	.	264	Q8NGJ7	O51A2_HUMAN	H	264	ENSP00000369729:R264H	ENSP00000369729:R264H	R	-	2	0	OR51A2	4932729	0.005000	0.15991	0.001000	0.08648	0.046000	0.14306	1.948000	0.40303	-0.053000	0.13289	0.503000	0.49774	CGC		0.453	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748	
OR4C12	283093	broad.mit.edu	37	11	50003720	50003720	+	Silent	SNP	A	A	G			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr11:50003720A>G	ENST00000335238.4	-	1	351	c.318T>C	c.(316-318)ggT>ggC	p.G106G		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TCTCAGTAGCACCAAAAATGT	0.453																																						uc010ria.1																			0				ovary(2)|skin(1)	3						c.(316-318)GGT>GGC		olfactory receptor, family 4, subfamily C,							143.0	142.0	142.0					11																	50003720		2201	4296	6497	SO:0001819	synonymous_variant	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003720A>G	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.318T>C	11.37:g.50003720A>G							p.G106G	NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN			1	318	-			106			Helical; Name=3; (Potential).		B2RNF0|Q6IF49	Silent	SNP	ENST00000335238.4	37	c.318T>C	CCDS31496.1																																																																																				0.453	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270	
CARD16	114769	broad.mit.edu	37	11	104912141	104912141	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr11:104912141G>A	ENST00000375706.2	-	3	597	c.580C>T	c.(580-582)Cat>Tat	p.H194Y	CASP1_ENST00000415981.2_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000598974.1_Intron	NM_001017534.1	NP_001017534.1	Q5EG05	CAR16_HUMAN	caspase recruitment domain family, member 16	194					regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						GATAATTTATGAGTTCCAGTT	0.398																																						uc001pip.1																			0				skin(1)	1						c.(580-582)CAT>TAT		caspase-1 dominant-negative inhibitor pseudo-ICE							66.0	70.0	69.0					11																	104912141		2202	4299	6501	SO:0001583	missense	114769				regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity	g.chr11:104912141G>A		CCDS31661.1, CCDS41705.1	11q23	2008-09-15				ENSG00000204397			33701	protein-coding gene	gene with protein product		615680				11432859, 11536016	Standard	NM_052889		Approved	COP1, COP, PSEUDO-ICE		Q5EG05		ENST00000375706.2:c.580C>T	11.37:g.104912141G>A	ENSP00000364858:p.His194Tyr					CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_3'UTR	p.H194Y	NM_001017534	NP_001017534	Q5EG05	CAR16_HUMAN			3	607	-			194					Q96RJ9	Missense_Mutation	SNP	ENST00000375706.2	37	c.580C>T	CCDS31661.1	.	.	.	.	.	.	.	.	.	.	.	5.563	0.288706	0.10513	.	.	ENSG00000204397	ENST00000375706	T	0.18960	2.18	0.738	0.738	0.18319	.	0.188169	0.44285	U	0.000463	T	0.08670	0.0215	N	0.22421	0.69	0.09310	N	1	P	0.47604	0.898	B	0.28784	0.094	T	0.33240	-0.9876	9	0.87932	D	0	.	.	.	.	.	194	Q5EG05	CAR16_HUMAN	Y	194	ENSP00000364858:H194Y	ENSP00000364858:H194Y	H	-	1	0	CARD16	104417351	0.001000	0.12720	0.005000	0.12908	0.038000	0.13279	0.716000	0.25836	0.678000	0.31325	0.313000	0.20887	CAT		0.398	CARD16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388147.1		
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	IGR	SNP	G	G	C	rs199863259		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr12:13028751G>C								DDX47 (45836 upstream) : GPRC5A (14964 downstream)																							GGTGTTTGACGGCATCCCACC	0.612																																						uc010sho.1																			0					0						c.(319-321)GGC>CGC		SubName: Full=Ribosomal protein L13a variant; Flags: Fragment;																																				SO:0001628	intergenic_variant	387841							g.chr12:13028751G>C																													12.37:g.13028751G>C							p.G107R	NR_003932						1	341	+									Missense_Mutation	SNP		37	c.319G>C																																																																																				0	0.612								
SLC38A1	81539	broad.mit.edu	37	12	46594890	46594890	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr12:46594890T>C	ENST00000398637.5	-	13	1688	c.994A>G	c.(994-996)Aca>Gca	p.T332A	SLC38A1_ENST00000546893.1_Missense_Mutation_p.T332A|SLC38A1_ENST00000439706.1_Missense_Mutation_p.T332A|SLC38A1_ENST00000549049.1_Missense_Mutation_p.T332A|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000552197.1_Missense_Mutation_p.T332A	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	332					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CCATAGAATGTCAAGTAGCCA	0.294																																						uc001rpa.2																			0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(994-996)ACA>GCA		amino acid transporter system A1							62.0	56.0	58.0					12																	46594890		1806	4073	5879	SO:0001583	missense	81539				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	g.chr12:46594890T>C	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.994A>G	12.37:g.46594890T>C	ENSP00000381634:p.Thr332Ala					SLC38A1_uc001rpb.2_Missense_Mutation_p.T332A|SLC38A1_uc001rpc.2_Missense_Mutation_p.T332A|SLC38A1_uc001rpd.2_Missense_Mutation_p.T332A|SLC38A1_uc001rpe.2_Missense_Mutation_p.T332A|SLC38A1_uc010slh.1_Missense_Mutation_p.T305A|SLC38A1_uc009zkj.1_Missense_Mutation_p.T332A	p.T332A	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		13	1252	-	Lung SC(27;0.137)|Renal(347;0.236)		332			Helical; (Potential).		Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	ENST00000398637.5	37	c.994A>G	CCDS41774.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.573705	0.86542	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.02369	4.32;4.32;4.32;4.32;4.32	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000003	T	0.14700	0.0355	M	0.87682	2.9	0.58432	D	0.999991	B;P;P	0.37370	0.41;0.537;0.592	P;B;P	0.51516	0.45;0.437;0.672	T	0.00168	-1.1963	10	0.44086	T	0.13	-15.395	15.6633	0.77206	0.0:0.0:0.0:1.0	.	332;332;332	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	A	332	ENSP00000449607:T332A;ENSP00000398142:T332A;ENSP00000381634:T332A;ENSP00000447853:T332A;ENSP00000449756:T332A	ENSP00000381634:T332A	T	-	1	0	SLC38A1	44881157	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.979000	0.88103	2.090000	0.63153	0.455000	0.32223	ACA		0.294	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2		
TRPC4	7223	broad.mit.edu	37	13	38266163	38266163	+	Missense_Mutation	SNP	C	C	T	rs544186577		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr13:38266163C>T	ENST00000379705.3	-	4	2064	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K	TRPC4_ENST00000338947.5_Missense_Mutation_p.E230K|TRPC4_ENST00000447043.1_Missense_Mutation_p.E403K|TRPC4_ENST00000358477.2_Missense_Mutation_p.E403K|TRPC4_ENST00000426868.2_Missense_Mutation_p.E403K|TRPC4_ENST00000379679.1_Missense_Mutation_p.E230K|TRPC4_ENST00000379681.3_Missense_Mutation_p.E403K|TRPC4_ENST00000355779.2_Missense_Mutation_p.E403K|TRPC4_ENST00000379673.2_Missense_Mutation_p.E403K			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	403					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ATCATCCACTCGACGATGGTT	0.438													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18850	0.0		0.0	False		,,,				2504	0.0					uc001uws.2																			0				ovary(3)|skin(2)|breast(1)	6						c.(1207-1209)GAG>AAG		transient receptor potential cation channel,							93.0	84.0	87.0					13																	38266163		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38266163C>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1207G>A	13.37:g.38266163C>T	ENSP00000369027:p.Glu403Lys					TRPC4_uc010abv.2_Intron|TRPC4_uc001uwt.2_Missense_Mutation_p.E403K|TRPC4_uc010tey.1_Missense_Mutation_p.E403K|TRPC4_uc010abw.2_Missense_Mutation_p.E230K|TRPC4_uc010abx.2_Missense_Mutation_p.E403K|TRPC4_uc010aby.2_Missense_Mutation_p.E403K	p.E403K	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	4	1442	-			403			Cytoplasmic (Potential).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.1207G>A	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	35	5.538944	0.96474	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	D;D;D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.93197	0.7833	M	0.89904	3.07	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0;0.999	D;D;D;D;D;D	0.76575	0.95;0.977;0.988;0.98;0.977;0.95	D	0.93727	0.7038	10	0.87932	D	0	-26.5462	20.1931	0.98233	0.0:1.0:0.0:0.0	.	403;403;403;230;403;403	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	K	403;403;230;230;403;403;403;403;403	ENSP00000369027:E403K;ENSP00000369003:E403K;ENSP00000342580:E230K;ENSP00000369001:E230K;ENSP00000410133:E403K;ENSP00000348025:E403K;ENSP00000351264:E403K;ENSP00000368995:E403K;ENSP00000414316:E403K	ENSP00000342580:E230K	E	-	1	0	TRPC4	37164163	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.771000	0.95319	0.563000	0.77884	GAG		0.438	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306	
DACH1	1602	broad.mit.edu	37	13	72053352	72053352	+	Nonsense_Mutation	SNP	C	C	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr13:72053352C>A	ENST00000359684.2	-	9	1980	c.1981G>T	c.(1981-1983)Gaa>Taa	p.E661*	DACH1_ENST00000354591.4_Nonsense_Mutation_p.E407*|DACH1_ENST00000313174.7_Nonsense_Mutation_p.E461*|DACH1_ENST00000305425.4_Nonsense_Mutation_p.E609*			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	661	DACHbox-C.|Interaction with SIN3A. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCCCTTAGTTCTCTTTCCCTT	0.363																																						uc010thn.1																			0				breast(1)	1						c.(1819-1821)GAA>TAA		dachshund homolog 1 isoform a							107.0	100.0	102.0					13																	72053352		1802	4071	5873	SO:0001587	stop_gained	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72053352C>A	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1981G>T	13.37:g.72053352C>A	ENSP00000352712:p.Glu661*					DACH1_uc010tho.1_Nonsense_Mutation_p.E459*|DACH1_uc010thp.1_Nonsense_Mutation_p.E405*	p.E607*	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	9	2242	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	659			DACHbox-C.|Potential.|Interaction with SIN3A (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Nonsense_Mutation	SNP	ENST00000359684.2	37	c.1819G>T		.	.	.	.	.	.	.	.	.	.	C	43	9.928864	0.99298	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.2974	20.1338	0.98010	0.0:1.0:0.0:0.0	.	.	.	.	X	609;461;407;661;661	.	ENSP00000304994:E609X	E	-	1	0	DACH1	70951353	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.778000	0.68940	2.770000	0.95276	0.655000	0.94253	GAA		0.363	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392	
ACAN	176	broad.mit.edu	37	15	89400787	89400787	+	Silent	SNP	A	A	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr15:89400787A>T	ENST00000561243.1	+	11	4971	c.4971A>T	c.(4969-4971)ccA>ccT	p.P1657P	ACAN_ENST00000352105.7_Silent_p.P1657P|ACAN_ENST00000439576.2_Silent_p.P1657P|ACAN_ENST00000559004.1_Silent_p.P1657P			P16112	PGCA_HUMAN	aggrecan	1698	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGGATTCCCAACTGTTTCCC	0.537																																						uc010upo.1																			0				ovary(2)|central_nervous_system(1)	3						c.(4969-4971)CCA>CCT		aggrecan isoform 2 precursor							143.0	144.0	144.0					15																	89400787		1953	4131	6084	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89400787A>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.4971A>T	15.37:g.89400787A>T						ACAN_uc010upp.1_Silent_p.P1657P|ACAN_uc002bna.2_RNA	p.P1657P	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	5345	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1657					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.4971A>T	CCDS53970.1																																																																																				0.537	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135	
DPEP1	1800	broad.mit.edu	37	16	89703308	89703308	+	Missense_Mutation	SNP	G	G	A	rs34815649|rs368870164		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr16:89703308G>A	ENST00000393092.3	+	6	847	c.556G>A	c.(556-558)Gag>Aag	p.E186K	DPEP1_ENST00000261615.4_Missense_Mutation_p.E186K|DPEP1_ENST00000421184.1_Missense_Mutation_p.E186K	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	186					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GGGAGACAGCGAGCCCCAGAG	0.657																																						uc010cin.2																			0				large_intestine(1)	1						c.(556-558)GAG>AAG		dipeptidase 1 precursor	Cilastatin(DB01597)	G	LYS/GLU,LYS/GLU	0,4384		0,0,2192	67.0	75.0	72.0		556,556	-8.4	0.0	16		72	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	DPEP1	NM_001128141.1,NM_004413.3	56,56	0,1,6489	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	186/412,186/412	89703308	1,12979	2192	4298	6490	SO:0001583	missense	1800				proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr16:89703308G>A		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.556G>A	16.37:g.89703308G>A	ENSP00000376807:p.Glu186Lys					DPEP1_uc002fnr.3_Missense_Mutation_p.E186K|DPEP1_uc002fns.3_Missense_Mutation_p.E186K	p.E186K	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0258)	6	759	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	186					D3DX80|Q96AK2	Missense_Mutation	SNP	ENST00000393092.3	37	c.556G>A	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	G	4.276	0.050279	0.08243	0.0	1.16E-4	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.21031	2.03;2.03;2.03	5.3	-8.44	0.00950	.	1.016460	0.07837	N	0.962252	T	0.05593	0.0147	N	0.02697	-0.525	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.37957	-0.9683	10	0.06099	T	0.92	-6.4201	8.5302	0.33329	0.5259:0.2686:0.2055:0.0	.	186	P16444	DPEP1_HUMAN	K	186	ENSP00000397313:E186K;ENSP00000376807:E186K;ENSP00000261615:E186K	ENSP00000261615:E186K	E	+	1	0	DPEP1	88230809	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.843000	0.00736	-1.873000	0.01135	-2.069000	0.00389	GAG		0.657	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	NM_001128141	
PIK3R5	23533	broad.mit.edu	37	17	8792501	8792501	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr17:8792501G>T	ENST00000447110.1	-	9	974	c.850C>A	c.(850-852)Cct>Act	p.P284T	PIK3R5_ENST00000581552.1_Missense_Mutation_p.P284T|PIK3R5_ENST00000584803.1_Missense_Mutation_p.P284T	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	284				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CTGGCGACAGGGATGGGGATG	0.592																																					NSCLC(18;589 615 7696 20311 50332)	uc002glt.2																			0				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(850-852)CCT>ACT		phosphoinositide-3-kinase, regulatory subunit 5							75.0	68.0	70.0					17																	8792501		2203	4300	6503	SO:0001583	missense	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8792501G>T	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.850C>A	17.37:g.8792501G>T	ENSP00000392812:p.Pro284Thr					PIK3R5_uc010vuz.1_Missense_Mutation_p.P284T|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Silent_p.S232S|PIK3R5_uc010cob.1_5'UTR	p.P284T	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN			9	917	-			284	AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).				B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	c.850C>A	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536474	0.45176	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	D	0.87571	-2.27	5.15	5.15	0.70609	.	0.056446	0.64402	D	0.000001	D	0.90331	0.6975	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91383	0.5129	10	0.87932	D	0	-17.8798	18.4772	0.90797	0.0:0.0:1.0:0.0	.	284	Q8WYR1	PI3R5_HUMAN	T	284	ENSP00000392812:P284T	ENSP00000269300:P284T	P	-	1	0	PIK3R5	8733226	1.000000	0.71417	0.998000	0.56505	0.781000	0.44180	8.724000	0.91462	2.700000	0.92200	0.650000	0.86243	CCT		0.592	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308	
DBF4B	80174	broad.mit.edu	37	17	42828248	42828248	+	Missense_Mutation	SNP	G	G	A	rs201641003		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr17:42828248G>A	ENST00000315005.3	+	14	1613	c.1475G>A	c.(1474-1476)gGc>gAc	p.G492D	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	492					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCTGTTAAGGGCCCACTCCTC	0.592													g|||	1	0.000199681	0.0	0.0	5008	,	,		19545	0.001		0.0	False		,,,				2504	0.0					uc002ihf.2																			0					0						c.(1474-1476)GGC>GAC		DBF4 homolog B isoform 1							108.0	101.0	103.0					17																	42828248		2203	4300	6503	SO:0001583	missense	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42828248G>A	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1475G>A	17.37:g.42828248G>A	ENSP00000323663:p.Gly492Asp					DBF4B_uc010wjc.1_Intron	p.G492D	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN			14	1688	+		Prostate(33;0.0322)	492					D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	37	c.1475G>A	CCDS11485.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	10.17	1.276996	0.23307	.	.	ENSG00000161692	ENST00000315005	T	0.58797	0.31	2.53	-3.82	0.04281	.	5.772650	0.00649	N	0.000540	T	0.33962	0.0881	N	0.14661	0.345	0.09310	N	1	B	0.21452	0.056	B	0.14023	0.01	T	0.05484	-1.0882	9	.	.	.	.	2.6031	0.04871	0.3766:0.0:0.263:0.3604	.	492	Q8NFT6	DBF4B_HUMAN	D	492	ENSP00000323663:G492D	.	G	+	2	0	DBF4B	40183774	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.805000	0.01737	-0.911000	0.03843	-0.642000	0.03964	GGC		0.592	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104	
RGS9	8787	broad.mit.edu	37	17	63206625	63206625	+	Missense_Mutation	SNP	C	C	T	rs572338388		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr17:63206625C>T	ENST00000262406.9	+	17	1376	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	RGS9_ENST00000449996.3_Missense_Mutation_p.R434W|RGS9_ENST00000443584.3_Missense_Mutation_p.R434W	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	437					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCCTTTTATGCGGCGTCACCT	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17810	0.0		0.0	False		,,,				2504	0.0					uc002jfe.2																			0				ovary(2)|skin(2)	4						c.(1309-1311)CGG>TGG		regulator of G-protein signaling 9 isoform 1							121.0	125.0	124.0					17																	63206625		2081	4207	6288	SO:0001583	missense	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63206625C>T	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1309C>T	17.37:g.63206625C>T	ENSP00000262406:p.Arg437Trp					RGS9_uc010dem.2_Missense_Mutation_p.R434W|RGS9_uc002jfd.2_Missense_Mutation_p.R434W|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.R208W	p.R437W	NM_003835	NP_003826	O75916	RGS9_HUMAN			17	1419	+			437					A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	c.1309C>T	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914989	0.33815	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.34472	1.36;1.36	5.31	1.97	0.26223	.	0.195954	0.45126	D	0.000391	T	0.52901	0.1763	L	0.59436	1.845	0.36049	D	0.840602	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69654	0.965;0.922;0.964	T	0.63037	-0.6726	10	0.62326	D	0.03	.	14.0681	0.64844	0.4014:0.5986:0.0:0.0	.	437;437;434	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	W	437;434	ENSP00000262406:R437W;ENSP00000396329:R434W	ENSP00000262406:R437W	R	+	1	2	RGS9	60637087	0.997000	0.39634	0.997000	0.53966	0.867000	0.49689	1.611000	0.36879	0.232000	0.21100	0.655000	0.94253	CGG		0.572	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835	
ABCA5	23461	broad.mit.edu	37	17	67264191	67264191	+	Missense_Mutation	SNP	T	T	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr17:67264191T>A	ENST00000392676.3	-	23	3101	c.3037A>T	c.(3037-3039)Act>Tct	p.T1013S	ABCA5_ENST00000392677.2_Missense_Mutation_p.T1014S|ABCA5_ENST00000588877.1_Missense_Mutation_p.T1013S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1013					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	ACTATATCAGTAATTTCCTGA	0.303																																						uc002jif.2																			0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(3037-3039)ACT>TCT		ATP-binding cassette, sub-family A , member 5							38.0	38.0	38.0					17																	67264191		2203	4298	6501	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67264191T>A	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3037A>T	17.37:g.67264191T>A	ENSP00000376443:p.Thr1013Ser					ABCA5_uc002jib.2_5'UTR|ABCA5_uc002jic.2_Missense_Mutation_p.T236S|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.T1013S	p.T1013S	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN			22	4255	-	Breast(10;3.72e-11)		1013					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.3037A>T	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	T	6.597	0.478481	0.12521	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.83419	-1.72;-1.72	5.16	5.16	0.70880	.	0.193271	0.36374	N	0.002626	T	0.78375	0.4273	L	0.60455	1.87	0.25663	N	0.985971	P	0.35684	0.515	B	0.37387	0.248	T	0.70988	-0.4722	9	.	.	.	.	7.3147	0.26493	0.1418:0.0:0.1473:0.7108	.	1013	Q8WWZ7	ABCA5_HUMAN	S	1014;1013	ENSP00000376444:T1014S;ENSP00000376443:T1013S	.	T	-	1	0	ABCA5	64775786	0.998000	0.40836	1.000000	0.80357	0.915000	0.54546	0.974000	0.29436	2.074000	0.62210	0.528000	0.53228	ACT		0.303	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672	
TNRC6C	57690	broad.mit.edu	37	17	76083173	76083173	+	Splice_Site	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr17:76083173C>T	ENST00000588061.1	+	15	4528	c.3801C>T	c.(3799-3801)ctC>ctT	p.L1267L	TNRC6C_ENST00000544502.1_Splice_Site_p.L1264L|TNRC6C_ENST00000335749.4_Splice_Site_p.L1264L|TNRC6C_ENST00000541771.1_Splice_Site_p.L1267L|TNRC6C_ENST00000588847.1_Splice_Site_p.L1264L|TNRC6C_ENST00000301624.4_Splice_Site_p.L1267L			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1267	Silencing domain; interaction with CNOT1 and PAN3.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CTTACCCTCTCGGTGAGTGTC	0.572																																						uc002jud.2																			0				ovary(1)|central_nervous_system(1)	2						c.(3799-3801)CTC>CTT		trinucleotide repeat containing 6C isoform 2							102.0	110.0	107.0					17																	76083173		2118	4232	6350	SO:0001630	splice_region_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76083173C>T	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.3802+1C>T	17.37:g.76083173C>T						TNRC6C_uc002juf.2_Silent_p.L1264L	p.L1267L	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		14	4401	+			1267					G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	ENST00000588061.1	37	c.3801C>T	CCDS45798.1																																																																																				0.572	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996	Silent
ZNF554	115196	broad.mit.edu	37	19	2834236	2834236	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:2834236C>T	ENST00000317243.5	+	5	1201	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGTTCAACCGGAGGCATTC	0.532																																						uc002lwm.2																			0				ovary(1)	1						c.(1003-1005)CGG>TGG		zinc finger protein 554							78.0	84.0	82.0					19																	2834236		2047	4209	6256	SO:0001583	missense	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2834236C>T	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"""Zinc fingers, C2H2-type"", ""-"""	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.1003C>T	19.37:g.2834236C>T	ENSP00000321132:p.Arg335Trp					ZNF554_uc002lwl.2_Missense_Mutation_p.R284W	p.R335W	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1201	+		Hepatocellular(1079;0.137)	335			C2H2-type 2.		Q8NAT3|Q9BWN3	Missense_Mutation	SNP	ENST00000317243.5	37	c.1003C>T	CCDS42462.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252649	0.22965	.	.	ENSG00000172006	ENST00000317243	T	0.07444	3.19	2.65	-1.11	0.09840	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07458	0.0188	L	0.58510	1.815	0.09310	N	0.999999	B	0.25235	0.121	B	0.10450	0.005	T	0.34950	-0.9808	9	0.51188	T	0.08	.	2.4423	0.04498	0.2346:0.4749:0.0:0.2905	.	335	Q86TJ5	ZN554_HUMAN	W	335	ENSP00000321132:R335W	ENSP00000321132:R335W	R	+	1	2	ZNF554	2785236	0.000000	0.05858	0.395000	0.26283	0.409000	0.31022	-2.131000	0.01311	-0.278000	0.09180	-0.323000	0.08544	CGG		0.532	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303	
LDLR	3949	broad.mit.edu	37	19	11222312	11222312	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:11222312G>A	ENST00000558518.1	+	8	1370	c.1183G>A	c.(1183-1185)Gtg>Atg	p.V395M	LDLR_ENST00000455727.2_Missense_Mutation_p.V227M|LDLR_ENST00000557933.1_Missense_Mutation_p.V395M|LDLR_ENST00000535915.1_Missense_Mutation_p.V354M|LDLR_ENST00000545707.1_Missense_Mutation_p.V268M|LDLR_ENST00000558013.1_Missense_Mutation_p.V395M	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	395					cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	CTGCAAGGCTGTGGGTGAGCA	0.632																																					GBM(18;201 575 7820 21545)	uc002mqk.3																			1	Unknown(1)		lung(1)	ovary(2)|skin(2)	4						c.(1183-1185)GTG>ATG		low density lipoprotein receptor precursor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						36.0	36.0	36.0					19																	11222312		2203	4300	6503	SO:0001583	missense	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11222312G>A	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1183G>A	19.37:g.11222312G>A	ENSP00000454071:p.Val395Met					LDLR_uc010xlk.1_Missense_Mutation_p.V395M|LDLR_uc010xll.1_Missense_Mutation_p.V354M|LDLR_uc010xlm.1_Missense_Mutation_p.V248M|LDLR_uc010xln.1_Missense_Mutation_p.V268M|LDLR_uc010xlo.1_Missense_Mutation_p.V227M	p.V395M	NM_000527	NP_000518	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	8	1351	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	395			Extracellular (Potential).		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	c.1183G>A	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.844017	0.32606	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.90732	-2.69;-2.69;-2.72	5.56	-3.67	0.04476	Growth factor, receptor (1);	1.355660	0.05317	N	0.525868	D	0.91379	0.7280	M	0.64170	1.965	0.09310	N	1	P;B;B;B;B;B	0.34462	0.454;0.27;0.27;0.271;0.166;0.309	P;B;B;B;B;B	0.45343	0.477;0.377;0.382;0.291;0.382;0.382	D	0.84816	0.0793	10	0.54805	T	0.06	.	12.2133	0.54391	0.7911:0.0:0.2089:0.0	.	227;268;274;354;407;395	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	M	395;268;354;227	ENSP00000437639:V268M;ENSP00000440520:V354M;ENSP00000397829:V227M	ENSP00000252444:V395M	V	+	1	0	LDLR	11083312	0.000000	0.05858	0.001000	0.08648	0.050000	0.14768	-0.032000	0.12266	-0.395000	0.07715	0.591000	0.81541	GTG		0.632	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2		
RYR1	6261	broad.mit.edu	37	19	39008083	39008083	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:39008083C>T	ENST00000359596.3	+	66	9770	c.9770C>T	c.(9769-9771)gCc>gTc	p.A3257V	RYR1_ENST00000355481.4_Missense_Mutation_p.A3257V|RYR1_ENST00000360985.3_Missense_Mutation_p.A3257V			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3257					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGGGGGCTGGCCGAGTCAGGT	0.657																																						uc002oit.2																			0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(9769-9771)GCC>GTC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						48.0	44.0	45.0					19																	39008083		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39008083C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9770C>T	19.37:g.39008083C>T	ENSP00000352608:p.Ala3257Val					RYR1_uc002oiu.2_Missense_Mutation_p.A3257V|RYR1_uc002oiv.1_Missense_Mutation_p.A177V|RYR1_uc010xuf.1_Missense_Mutation_p.A177V	p.A3257V	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		66	9900	+	all_cancers(60;7.91e-06)		3257					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.9770C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	8.837	0.941242	0.18281	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.84589	-1.87;-1.87;-1.87	4.01	1.81	0.25067	.	0.000000	0.64402	U	0.000003	T	0.76608	0.4011	L	0.48642	1.525	0.44771	D	0.997776	B;B;B	0.20671	0.047;0.009;0.005	B;B;B	0.21151	0.033;0.012;0.005	T	0.64271	-0.6447	10	0.23891	T	0.37	.	7.5457	0.27766	0.165:0.745:0.0:0.0899	.	3257;3257;3257	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	V	3257;3257;3257;177	ENSP00000352608:A3257V;ENSP00000347667:A3257V;ENSP00000354254:A3257V	ENSP00000347667:A3257V	A	+	2	0	RYR1	43699923	1.000000	0.71417	0.978000	0.43139	0.105000	0.19272	5.823000	0.69272	0.327000	0.23409	0.205000	0.17691	GCC		0.657	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
ZNF235	9310	broad.mit.edu	37	19	44803797	44803797	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:44803797T>C	ENST00000291182.4	-	3	206	c.104A>G	c.(103-105)gAt>gGt	p.D35G	ZNF235_ENST00000589799.1_Missense_Mutation_p.D35G|ZNF235_ENST00000589248.1_Missense_Mutation_p.D35G	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CAGCATCACATCTCGGTACAG	0.517																																						uc002oza.3																			0				ovary(2)|large_intestine(1)	3						c.(103-105)GAT>GGT		zinc finger protein 93 homolog							218.0	196.0	203.0					19																	44803797		2203	4300	6503	SO:0001583	missense	9310				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44803797T>C	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.104A>G	19.37:g.44803797T>C	ENSP00000291182:p.Asp35Gly					ZNF235_uc002oyx.1_RNA|ZNF235_uc010eji.2_Missense_Mutation_p.D35G|ZNF235_uc002ozb.3_Missense_Mutation_p.D35G|ZNF235_uc010xwx.1_5'UTR	p.D35G	NM_004234	NP_004225	Q14590	ZN235_HUMAN			3	207	-		Prostate(69;0.0352)|all_neural(266;0.116)	35			KRAB.		B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	c.104A>G	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	T	19.30	3.801433	0.70682	.	.	ENSG00000159917	ENST00000433015;ENST00000391957;ENST00000291182	T	0.02837	4.14	4.05	4.05	0.47172	Krueppel-associated box (4);	0.456761	0.16298	N	0.220573	T	0.22166	0.0534	H	0.95504	3.68	0.34452	D	0.700813	D;D;D	0.89917	1.0;0.971;1.0	D;P;D	0.91635	0.992;0.783;0.999	T	0.45512	-0.9256	10	0.87932	D	0	.	11.231	0.48912	0.0:0.0:0.0:1.0	.	35;35;35	Q3KRA4;Q14590-2;Q14590	.;.;ZN235_HUMAN	G	35	ENSP00000291182:D35G	ENSP00000291182:D35G	D	-	2	0	ZNF235	49495637	0.620000	0.27068	0.814000	0.32528	0.987000	0.75469	2.822000	0.48073	1.800000	0.52685	0.533000	0.62120	GAT		0.517	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1		
FPR2	2358	broad.mit.edu	37	19	52272072	52272072	+	Missense_Mutation	SNP	G	G	A	rs192933693	byFrequency	TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:52272072G>A	ENST00000598776.1	+	2	933	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	FPR2_ENST00000598953.1_Missense_Mutation_p.R54Q|FPR2_ENST00000340023.6_Missense_Mutation_p.R54Q	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	54					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GCTGGATTCCGGATGACACGC	0.562													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20931	0.0		0.0	False		,,,				2504	0.0					uc002pxr.2																			0				lung(3)|ovary(1)	4						c.(160-162)CGG>CAG		formyl peptide receptor-like 1							200.0	158.0	172.0					19																	52272072		2203	4300	6503	SO:0001583	missense	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272072G>A	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.161G>A	19.37:g.52272072G>A	ENSP00000468897:p.Arg54Gln					FPR2_uc002pxs.3_Missense_Mutation_p.R54Q|FPR2_uc010epf.2_Missense_Mutation_p.R54Q	p.R54Q	NM_001005738	NP_001005738	P25090	FPR2_HUMAN			2	206	+			54			Cytoplasmic (Potential).		A8K3E2	Missense_Mutation	SNP	ENST00000598776.1	37	c.161G>A	CCDS12840.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	17.74	3.464087	0.63513	.	.	ENSG00000171049	ENST00000340023	T	0.40756	1.02	3.61	2.56	0.30785	GPCR, rhodopsin-like superfamily (1);	0.335546	0.27696	U	0.018226	T	0.33498	0.0865	L	0.41632	1.29	0.31442	N	0.671801	P	0.41345	0.746	B	0.42188	0.379	T	0.34229	-0.9837	10	0.32370	T	0.25	.	9.2399	0.37489	0.1118:0.0:0.8882:0.0	.	54	P25090	FPR2_HUMAN	Q	54	ENSP00000340191:R54Q	ENSP00000340191:R54Q	R	+	2	0	FPR2	56963884	0.998000	0.40836	1.000000	0.80357	0.931000	0.56810	0.896000	0.28377	0.885000	0.36088	-0.333000	0.08304	CGG		0.562	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738	
UBE2M	9040	broad.mit.edu	37	19	59067682	59067682	+	Splice_Site	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:59067682C>T	ENST00000253023.3	-	5	990		c.e5+1		AC016629.8_ENST00000600534.1_RNA|CHMP2A_ENST00000312547.2_5'Flank|AC016629.8_ENST00000600726.1_RNA|CHMP2A_ENST00000600118.1_5'Flank|AC016629.8_ENST00000593642.1_RNA|CHMP2A_ENST00000601220.1_5'Flank	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M						cellular protein modification process (GO:0006464)|positive regulation of neuron apoptotic process (GO:0043525)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)|ribosomal S6-glutamic acid ligase activity (GO:0018169)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TTCCTACTCACCAAGAAGAGA	0.552																																						uc002qtl.3																			0				ovary(1)|pancreas(1)	2						c.e5+1		ubiquitin-conjugating enzyme E2M							99.0	101.0	100.0					19																	59067682		2203	4300	6503	SO:0001630	splice_region_variant	9040				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity	g.chr19:59067682C>T	AB012191	CCDS12987.1	19q13.43	2011-05-19	2011-05-19		ENSG00000130725	ENSG00000130725		"""Ubiquitin-conjugating enzymes E2"""	12491	protein-coding gene	gene with protein product		603173	"""ubiquitin-conjugating enzyme E2M (homologous to yeast UBC12)"", ""ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast)"""			9694792	Standard	NM_003969		Approved	hUbc12, UBC12	uc002qtl.4	P61081		ENST00000253023.3:c.411+1G>A	19.37:g.59067682C>T						CHMP2A_uc002qti.2_5'Flank|CHMP2A_uc002qtj.2_5'Flank|CHMP2A_uc002qtk.2_5'Flank|LOC100131691_uc002qtm.2_5'Flank	p.L137_splice	NM_003969	NP_003960	P61081	UBC12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	5	1006	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)						O76069|Q8VC50	Splice_Site	SNP	ENST00000253023.3	37	c.411_splice	CCDS12987.1	.	.	.	.	.	.	.	.	.	.	.	19.59	3.856741	0.71834	.	.	ENSG00000130725	ENST00000253023	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.356	0.74428	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBE2M	63759494	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.068000	0.50018	2.582000	0.87167	0.655000	0.94253	.		0.552	UBE2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467097.1	NM_003969	Intron
IL1A	3552	broad.mit.edu	37	2	113532647	113532647	+	Silent	SNP	C	C	T	rs3783588		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr2:113532647C>T	ENST00000263339.3	-	7	968	c.813G>A	c.(811-813)gcG>gcA	p.A271A		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	271					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|response to copper ion (GO:0046688)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	copper ion binding (GO:0005507)|cytokine activity (GO:0005125)			breast(2)|large_intestine(1)|lung(9)	12					Rilonacept(DB06372)	TCCAGACCTACGCCTGGTTTT	0.458																																						uc002tig.2																			0				lung(1)	1						c.(811-813)GCG>GCA		interleukin 1, alpha proprotein							88.0	82.0	84.0					2																	113532647		2203	4300	6503	SO:0001819	synonymous_variant	3552				anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding	g.chr2:113532647C>T	M28983	CCDS2101.1	2q14	2014-01-30			ENSG00000115008	ENSG00000115008		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5991	protein-coding gene	gene with protein product	"""preinterleukin 1 alpha"", ""hematopoietin-1"", ""pro-interleukin-1-alpha"""	147760		IL1		8188271, 2989698	Standard	NM_000575		Approved	IL1F1, IL-1A, IL1-ALPHA	uc002tig.3	P01583	OTTHUMG00000131315	ENST00000263339.3:c.813G>A	2.37:g.113532647C>T							p.A271A	NM_000575	NP_000566	P01583	IL1A_HUMAN			7	1773	-			271					Q53QF9|Q7RU02	Silent	SNP	ENST00000263339.3	37	c.813G>A	CCDS2101.1																																																																																				0.458	IL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254084.1	NM_000575	
TTN	7273	broad.mit.edu	37	2	179448473	179448473	+	Silent	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr2:179448473G>A	ENST00000591111.1	-	262	60737	c.60513C>T	c.(60511-60513)caC>caT	p.H20171H	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Silent_p.H12939H|TTN_ENST00000342992.6_Silent_p.H19244H|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.H12872H|TTN_ENST00000460472.2_Silent_p.H12747H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000589042.1_Silent_p.H21812H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20171	Fibronectin type-III 46. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGGAATCTGGTGAGGTGCAG	0.463																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(57730-57732)CAC>CAT		titin isoform N2-A							67.0	64.0	65.0					2																	179448473		1884	4108	5992	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179448473G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.60513C>T	2.37:g.179448473G>A						uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.H12939H|TTN_uc010zfi.1_Silent_p.H12872H|TTN_uc010zfj.1_Silent_p.H12747H	p.H19244H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		261	57956	-			20171					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.57732C>T																																																																																					0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
MATN4	8785	broad.mit.edu	37	20	43927050	43927050	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr20:43927050C>T	ENST00000372754.1	-	7	1317	c.1309G>A	c.(1309-1311)Gag>Aag	p.E437K	MATN4_ENST00000372751.4_Missense_Mutation_p.E247K|MATN4_ENST00000353917.5_Missense_Mutation_p.E314K|MATN4_ENST00000360607.6_Missense_Mutation_p.E355K|MATN4_ENST00000372756.1_Missense_Mutation_p.E396K|MATN4_ENST00000537548.1_Missense_Mutation_p.E396K|MATN4_ENST00000342716.4_Missense_Mutation_p.E396K			O95460	MATN4_HUMAN	matrilin 4	437	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGAGGGAACTCGGTGCGCACG	0.657																																						uc002xnn.2																			0					0						c.(1186-1188)GAG>AAG		matrilin 4 isoform 1 precursor							51.0	46.0	48.0					20																	43927050		2203	4300	6503	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43927050C>T	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1309G>A	20.37:g.43927050C>T	ENSP00000361840:p.Glu437Lys					MATN4_uc002xno.2_Missense_Mutation_p.E355K|MATN4_uc002xnp.2_Missense_Mutation_p.E314K|MATN4_uc010zwr.1_Missense_Mutation_p.E344K|MATN4_uc002xnr.1_Missense_Mutation_p.E396K	p.E396K	NM_003833	NP_003824	O95460	MATN4_HUMAN			7	1373	-		Myeloproliferative disorder(115;0.0122)	437			VWFA 2.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.1186G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.663951	0.96745	.	.	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	D;D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	5.45	5.45	0.79879	.	0.000000	0.44688	D	0.000433	D	0.94584	0.8255	M	0.94063	3.49	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.91635	0.999;0.866;0.998	D	0.95673	0.8725	10	0.87932	D	0	.	18.3404	0.90303	0.0:1.0:0.0:0.0	.	314;355;396	A6NNA4;O95460-4;O95460-2	.;.;.	K	247;437;396;314;355;396;396;437;247	ENSP00000361839:E247K;ENSP00000361840:E437K;ENSP00000361842:E396K;ENSP00000243983:E314K;ENSP00000353819:E355K;ENSP00000343164:E396K;ENSP00000440328:E396K;ENSP00000361837:E247K	ENSP00000255132:E437K	E	-	1	0	MATN4	43360464	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.764000	0.85297	2.562000	0.86427	0.650000	0.86243	GAG		0.657	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1		
USP25	29761	broad.mit.edu	37	21	17199405	17199405	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr21:17199405C>T	ENST00000285679.6	+	14	1945	c.1576C>T	c.(1576-1578)Cgg>Tgg	p.R526W	USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Missense_Mutation_p.R526W|USP25_ENST00000285681.2_Missense_Mutation_p.R526W	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	526	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TACTCAGTCCCGGATACCTCC	0.473																																						uc002yjy.1																			0				ovary(3)|liver(2)	5						c.(1576-1578)CGG>TGG		ubiquitin specific peptidase 25							152.0	132.0	139.0					21																	17199405		2203	4300	6503	SO:0001583	missense	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17199405C>T	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.1576C>T	21.37:g.17199405C>T	ENSP00000285679:p.Arg526Trp					USP25_uc011aby.1_Missense_Mutation_p.R526W|USP25_uc002yjz.1_Missense_Mutation_p.R526W|USP25_uc010gla.1_Intron	p.R526W	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	14	1793	+			526					C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	c.1576C>T	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539534	0.85917	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	T;T;T	0.26660	1.74;1.72;1.73	4.6	3.63	0.41609	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.992;0.992;0.998	T	0.53222	-0.8469	10	0.72032	D	0.01	.	14.1631	0.65459	0.1507:0.8493:0.0:0.0	.	526;526;526	Q9UHP3-3;Q9UHP3-1;Q9UHP3	.;.;UBP25_HUMAN	W	526	ENSP00000285681:R526W;ENSP00000285679:R526W;ENSP00000383044:R526W	ENSP00000285679:R526W	R	+	1	2	USP25	16121276	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.665000	0.54532	2.478000	0.83669	0.557000	0.71058	CGG		0.473	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1		
SON	6651	broad.mit.edu	37	21	34923961	34923961	+	Silent	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr21:34923961C>T	ENST00000356577.4	+	3	2899	c.2424C>T	c.(2422-2424)acC>acT	p.T808T	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Silent_p.T808T|SON_ENST00000300278.4_Silent_p.T808T|SON_ENST00000290239.6_Silent_p.T808T	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	808	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.T808T(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGTTAGCAACCAGCTCCATGG	0.512																																						uc002yse.1																			2	Substitution - coding silent(2)		endometrium(2)	ovary(4)|skin(2)	6						c.(2422-2424)ACC>ACT		SON DNA-binding protein isoform F							132.0	132.0	132.0					21																	34923961		2203	4300	6503	SO:0001819	synonymous_variant	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34923961C>T	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.2424C>T	21.37:g.34923961C>T						SON_uc002ysb.1_Silent_p.T808T|SON_uc002ysc.2_Silent_p.T808T|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	p.T808T	NM_138927	NP_620305	P18583	SON_HUMAN			3	2473	+			808			17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	c.2424C>T	CCDS13629.1																																																																																				0.512	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927	
SON	6651	broad.mit.edu	37	21	34923991	34923991	+	Silent	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr21:34923991C>T	ENST00000356577.4	+	3	2929	c.2454C>T	c.(2452-2454)acC>acT	p.T818T	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Silent_p.T818T|SON_ENST00000300278.4_Silent_p.T818T|SON_ENST00000290239.6_Silent_p.T818T	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	818	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGTTAGCAACCAGCTCCATGG	0.507																																						uc002yse.1																			0				ovary(4)|skin(2)	6						c.(2452-2454)ACC>ACT		SON DNA-binding protein isoform F							99.0	100.0	99.0					21																	34923991		2197	4284	6481	SO:0001819	synonymous_variant	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34923991C>T	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.2454C>T	21.37:g.34923991C>T						SON_uc002ysb.1_Silent_p.T818T|SON_uc002ysc.2_Silent_p.T818T|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	p.T818T	NM_138927	NP_620305	P18583	SON_HUMAN			3	2503	+			818			17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	c.2454C>T	CCDS13629.1																																																																																				0.507	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927	
NEFH	4744	broad.mit.edu	37	22	29886478	29886478	+	Frame_Shift_Del	DEL	C	C	-	rs553629461		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr22:29886478delC	ENST00000310624.6	+	4	2882	c.2849delC	c.(2848-2850)gcafs	p.A951fs		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	957	Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AAGAAGGAGGCAGCACCGGAG	0.512																																						uc003afo.2																			0					0						c.(2848-2850)GCAfs		neurofilament, heavy polypeptide 200kDa							109.0	101.0	104.0					22																	29886478		2203	4299	6502	SO:0001589	frameshift_variant	4744				cell death|nervous system development	neurofilament		g.chr22:29886478delC		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2849delC	22.37:g.29886478delC	ENSP00000311997:p.Ala951fs					NEFH_uc003afp.2_Frame_Shift_Del_p.Q16fs	p.A950fs	NM_021076	NP_066554	P12036	NFH_HUMAN			4	2920	+			956			Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Frame_Shift_Del	DEL	ENST00000310624.6	37	c.2849delC	CCDS13858.1																																																																																				0.512	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
GGA1	26088	broad.mit.edu	37	22	38016358	38016366	+	In_Frame_Del	DEL	AAAGAAGCA	AAAGAAGCA	-			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr22:38016358_38016366delAAAGAAGCA	ENST00000343632.4	+	5	803_811	c.417_425delAAAGAAGCA	c.(415-426)ctaaagaagcag>ctg	p.KKQ140del	GGA1_ENST00000406772.1_In_Frame_Del_p.KKQ67del|GGA1_ENST00000381756.5_In_Frame_Del_p.KKQ157del|GGA1_ENST00000325180.8_In_Frame_Del_p.KKQ140del|GGA1_ENST00000337437.4_In_Frame_Del_p.KKQ107del	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	140	Interaction with ARF3.|VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					ACCAGATGCTAAAGAAGCAGGGTGAGGCA	0.617																																						uc003atc.2																			0				breast(2)|ovary(1)	3						c.(415-426)CTAAAGAAGCAG>CTG		golgi associated, gamma adaptin ear containing,																																				SO:0001651	inframe_deletion	26088				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38016358_38016366delAAAGAAGCA	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.417_425delAAAGAAGCA	22.37:g.38016358_38016366delAAAGAAGCA	ENSP00000341344:p.Lys140_Gln142del					GGA1_uc003atd.2_In_Frame_Del_p.KKQ140del|GGA1_uc003ate.2_In_Frame_Del_p.KKQ140del|GGA1_uc003atf.2_In_Frame_Del_p.KKQ67del	p.KKQ140del	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN			5	782_790	+	Melanoma(58;0.0574)		140_142			Interaction with ARF3.|VHS.		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	In_Frame_Del	DEL	ENST00000343632.4	37	c.417_425delAAAGAAGCA	CCDS13951.1																																																																																				0.617	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365	
XPC	7508	broad.mit.edu	37	3	14197915	14197915	+	Silent	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr3:14197915C>T	ENST00000285021.7	-	10	2167	c.1953G>A	c.(1951-1953)cgG>cgA	p.R651R	XPC_ENST00000449060.2_Silent_p.R614R	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	651	DNA-binding; preference for heteroduplex DNA.|Interaction with RAD23B.|Minimal sensor domain involved in damage recognition.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCAGGAGATGCCGCTTCAGGG	0.532			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc011ave.1			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	Mis|N|F|S	"""xeroderma pigmentosum, complementation group C"""			E		skin basal cell|skin squamous cell|melanoma			0				ovary(2)|breast(1)	3						c.(1951-1953)CGG>CGA	NER	xeroderma pigmentosum, complementation group C							133.0	130.0	131.0					3																	14197915		1988	4161	6149	SO:0001819	synonymous_variant	7508	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14197915C>T		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.1953G>A	3.37:g.14197915C>T						XPC_uc011avf.1_Silent_p.R458R|XPC_uc011avg.1_Silent_p.R614R	p.R651R	NM_004628	NP_004619	Q01831	XPC_HUMAN			10	2057	-			651			Minimal sensor domain involved in damage recognition.|DNA-binding; preference for heteroduplex DNA.|Interaction with RAD23B.		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Silent	SNP	ENST00000285021.7	37	c.1953G>A	CCDS46763.1																																																																																				0.532	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628	
MINA	84864	broad.mit.edu	37	3	97669652	97669652	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr3:97669652C>T	ENST00000333396.7	-	6	1448	c.866G>A	c.(865-867)gGc>gAc	p.G289D	MINA_ENST00000394198.2_Missense_Mutation_p.G289D|MINA_ENST00000360258.4_Missense_Mutation_p.G289D	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3			MYC induced nuclear antigen											breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						CCGGGGTATGCCGGTCCGTAA	0.532																																						uc003drz.1																			0				ovary(1)	1						c.(865-867)GGC>GAC		MYC induced nuclear antigen isoform a							90.0	83.0	85.0					3																	97669652		2203	4300	6503	SO:0001583	missense	84864				ribosome biogenesis	cytoplasm|nucleolus		g.chr3:97669652C>T	AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854			19441	protein-coding gene	gene with protein product		612049				12091391	Standard	NM_001042533		Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.866G>A	3.37:g.97669652C>T	ENSP00000328251:p.Gly289Asp					MINA_uc003dry.1_5'Flank|MINA_uc003dsa.1_Missense_Mutation_p.G289D|MINA_uc003dsb.1_Missense_Mutation_p.G289D|MINA_uc003dsc.1_Missense_Mutation_p.G289D|MINA_uc010hpa.1_RNA	p.G289D	NM_001042533	NP_001035998	Q8IUF8	MINA_HUMAN			6	1372	-			289						Missense_Mutation	SNP	ENST00000333396.7	37	c.866G>A	CCDS43114.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666304	0.88251	.	.	ENSG00000170854	ENST00000442492;ENST00000333396;ENST00000394198;ENST00000360258	T;T;T	0.18502	2.21;2.21;2.21	5.91	5.91	0.95273	Cupin, JmjC-type (1);	0.044809	0.85682	D	0.000000	T	0.47820	0.1466	M	0.85710	2.77	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.991;0.995	T	0.32561	-0.9902	10	0.22109	T	0.4	-16.5243	20.2985	0.98592	0.0:1.0:0.0:0.0	.	289;289	Q8IUF8-4;Q8IUF8	.;MINA_HUMAN	D	35;289;289;289	ENSP00000328251:G289D;ENSP00000377748:G289D;ENSP00000353395:G289D	ENSP00000328251:G289D	G	-	2	0	MINA	99152342	1.000000	0.71417	0.955000	0.39395	0.680000	0.39746	6.189000	0.72051	2.793000	0.96121	0.655000	0.94253	GGC		0.532	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359244.3	NM_032778	
TMPRSS7	344805	broad.mit.edu	37	3	111769547	111769547	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr3:111769547A>G	ENST00000452346.2	+	9	1123	c.1120A>G	c.(1120-1122)Atc>Gtc	p.I374V	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.I248V			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	374	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGTCAAAGACATCACTGGCTT	0.403																																						uc010hqb.2																			0				ovary(1)|kidney(1)	2						c.(742-744)ATC>GTC		transmembrane protease, serine 7							225.0	208.0	213.0					3																	111769547		1867	4096	5963	SO:0001583	missense	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111769547A>G	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1120A>G	3.37:g.111769547A>G	ENSP00000398236:p.Ile374Val					TMPRSS7_uc011bhr.1_Missense_Mutation_p.I103V	p.I248V	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN			7	912	+			374			Extracellular (Potential).|CUB 2.		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37	c.742A>G		.	.	.	.	.	.	.	.	.	.	A	10.67	1.414283	0.25465	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	T;T	0.37411	1.2;1.2	4.86	4.86	0.63082	CUB (4);	0.364715	0.28659	N	0.014568	T	0.17959	0.0431	N	0.03608	-0.345	0.25498	N	0.98759	B;B	0.23854	0.092;0.075	B;B	0.24541	0.054;0.032	T	0.15150	-1.0447	10	0.32370	T	0.25	.	12.2556	0.54621	1.0:0.0:0.0:0.0	.	374;248	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	V	374;362;348;248	ENSP00000398236:I374V;ENSP00000411645:I248V	ENSP00000411645:I248V	I	+	1	0	TMPRSS7	113252237	0.564000	0.26602	0.992000	0.48379	0.869000	0.49853	1.970000	0.40520	1.946000	0.56461	0.377000	0.23210	ATC		0.403	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599	
RPL22L1	200916	broad.mit.edu	37	3	170584263	170584263	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr3:170584263T>C	ENST00000295830.8	-	4	590	c.275A>G	c.(274-276)gAt>gGt	p.D92G	RPL22L1_ENST00000463836.1_Missense_Mutation_p.D91G	NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1	92					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TCGAAGCCAATCACGAAGATT	0.353																																						uc003fhc.3																			0					0						c.(274-276)GAT>GGT		ribosomal protein L22-like 1							53.0	49.0	51.0					3																	170584263		1837	4087	5924	SO:0001583	missense	200916				translation	ribosome	structural constituent of ribosome	g.chr3:170584263T>C	BC062731	CCDS46955.1	3q26.2	2005-08-09			ENSG00000163584	ENSG00000163584			27610	protein-coding gene	gene with protein product							Standard	NM_001099645		Approved		uc003fhc.4	Q6P5R6	OTTHUMG00000158957	ENST00000295830.8:c.275A>G	3.37:g.170584263T>C	ENSP00000346080:p.Asp92Gly					RPL22L1_uc003fhb.3_RNA	p.D92G	NM_001099645	NP_001093115	Q6P5R6	RL22L_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		4	364	-	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		92					Q32Q77	Missense_Mutation	SNP	ENST00000295830.8	37	c.275A>G	CCDS46955.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117491	0.77323	.	.	ENSG00000163584	ENST00000295830;ENST00000466674;ENST00000463836	T;T;T	0.58506	0.33;0.33;0.33	5.37	4.21	0.49690	.	0.046611	0.85682	N	0.000000	T	0.78387	0.4275	M	0.93197	3.39	0.80722	D	1	D	0.59357	0.985	P	0.61201	0.885	T	0.82080	-0.0634	10	0.87932	D	0	.	10.8702	0.46879	0.0:0.0739:0.0:0.9261	.	92	Q6P5R6	RL22L_HUMAN	G	92;112;91	ENSP00000346080:D92G;ENSP00000419713:D112G;ENSP00000419041:D91G	ENSP00000346080:D92G	D	-	2	0	RPL22L1	172066957	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.013000	0.88655	0.890000	0.36211	0.260000	0.18958	GAT		0.353	RPL22L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352586.2	XM_114317	
HRG	3273	broad.mit.edu	37	3	186390618	186390618	+	Missense_Mutation	SNP	C	C	T	rs140916341	byFrequency	TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr3:186390618C>T	ENST00000232003.4	+	5	681	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	201	Cystatin 2.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CTTCTCTGTGCGGAACTGCCC	0.423																																						uc003fqq.2																			0				ovary(1)|central_nervous_system(1)	2						c.(601-603)CGG>TGG		histidine-rich glycoprotein precursor		C	TRP/ARG	0,4406		0,0,2203	100.0	96.0	98.0		601	3.2	1.0	3	dbSNP_134	98	5,8595	4.3+/-15.6	0,5,4295	yes	missense	HRG	NM_000412.2	101	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	probably-damaging	201/526	186390618	5,13001	2203	4300	6503	SO:0001583	missense	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186390618C>T		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.601C>T	3.37:g.186390618C>T	ENSP00000232003:p.Arg201Trp						p.R201W	NM_000412	NP_000403	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	5	624	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		201			Cystatin 2.		B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	c.601C>T	CCDS3280.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.63	1.995518	0.35226	0.0	5.81E-4	ENSG00000113905	ENST00000232003	T	0.13196	2.61	4.35	3.19	0.36642	Proteinase inhibitor I25, cystatin (1);	0.000000	0.47093	D	0.000251	T	0.29783	0.0744	L	0.61218	1.895	0.31139	N	0.706824	D	0.89917	1.0	D	0.79784	0.993	T	0.17198	-1.0377	10	0.72032	D	0.01	-12.8936	8.256	0.31756	0.7841:0.2159:0.0:0.0	.	201	P04196	HRG_HUMAN	W	201	ENSP00000232003:R201W	ENSP00000232003:R201W	R	+	1	2	HRG	187873312	0.996000	0.38824	0.969000	0.41365	0.022000	0.10575	1.195000	0.32186	0.785000	0.33685	-0.397000	0.06425	CGG		0.423	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412	
CNOT6L	246175	broad.mit.edu	37	4	78665959	78665959	+	Silent	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr4:78665959G>A	ENST00000504123.1	-	7	760	c.630C>T	c.(628-630)tgC>tgT	p.C210C	CNOT6L_ENST00000506166.1_Intron|CNOT6L_ENST00000264903.4_Silent_p.C210C			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	210	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CCCAGGATGGGCAATAGCCAT	0.393																																						uc011ccd.1																			0				large_intestine(1)	1						c.(628-630)TGC>TGT		CCR4-NOT transcription complex, subunit 6-like							64.0	60.0	61.0					4																	78665959		1919	4138	6057	SO:0001819	synonymous_variant	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78665959G>A	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.630C>T	4.37:g.78665959G>A						CNOT6L_uc003hks.2_Silent_p.C210C|CNOT6L_uc003hkt.1_Silent_p.C53C|CNOT6L_uc011cce.1_Intron	p.C210C	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN			7	761	-			210					Q9UF92	Silent	SNP	ENST00000504123.1	37	c.630C>T		.	.	.	.	.	.	.	.	.	.	G	9.478	1.097497	0.20552	.	.	ENSG00000138767	ENST00000515506	.	.	.	5.17	2.45	0.29901	.	.	.	.	.	T	0.58764	0.2145	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51639	-0.8680	4	.	.	.	-0.7469	9.8583	0.41098	0.2271:0.0:0.7729:0.0	.	.	.	.	S	239	.	.	P	-	1	0	CNOT6L	78884983	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.627000	0.37050	0.269000	0.21961	0.655000	0.94253	CCC		0.393	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1		
PLCXD3	345557	broad.mit.edu	37	5	41382448	41382448	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr5:41382448G>A	ENST00000377801.3	-	2	366	c.292C>T	c.(292-294)Cga>Tga	p.R98*	PLCXD3_ENST00000328457.3_Nonsense_Mutation_p.R98*			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	98	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.R98*(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GTGGAAATTCGAAGATCAAAA	0.443																																						uc003jmm.1																			1	Substitution - Nonsense(1)		prostate(1)	skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(292-294)CGA>TGA		phosphatidylinositol-specific phospholipase C, X							73.0	77.0	76.0					5																	41382448		2203	4300	6503	SO:0001587	stop_gained	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382448G>A		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.292C>T	5.37:g.41382448G>A	ENSP00000367032:p.Arg98*						p.R98*	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			2	394	-			98			PI-PLC X-box.		A6NL04	Nonsense_Mutation	SNP	ENST00000377801.3	37	c.292C>T	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	G	37	5.983984	0.97173	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4392	15.2559	0.73585	0.0:0.0:0.8274:0.1726	.	.	.	.	X	98	.	ENSP00000333751:R98X	R	-	1	2	PLCXD3	41418205	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.026000	0.70873	2.885000	0.99019	0.655000	0.94253	CGA		0.443	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875	
ERAP2	64167	broad.mit.edu	37	5	96239220	96239220	+	Silent	SNP	T	T	C	rs115987752	byFrequency	TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr5:96239220T>C	ENST00000437043.3	+	13	2679	c.1968T>C	c.(1966-1968)ccT>ccC	p.P656P	ERAP2_ENST00000379904.4_Silent_p.P611P|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	656					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TTCTCAGACCTAAGGACAGAG	0.418													T|||	2	0.000399361	0.0015	0.0	5008	,	,		19785	0.0		0.0	False		,,,				2504	0.0					uc003kmq.2																			0					0						c.(1966-1968)CCT>CCC		endoplasmic reticulum aminopeptidase 2							131.0	124.0	127.0					5																	96239220		2203	4300	6503	SO:0001819	synonymous_variant	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96239220T>C	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.1968T>C	5.37:g.96239220T>C						uc003kmo.1_Intron|ERAP2_uc003kmt.2_Silent_p.P656P|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Silent_p.P605P|ERAP2_uc003kmu.2_RNA	p.P656P	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	13	2678	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	656			Lumenal (Potential).		Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Silent	SNP	ENST00000437043.3	37	c.1968T>C	CCDS4086.1																																																																																				0.418	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350	
OOEP	441161	broad.mit.edu	37	6	74079407	74079407	+	Missense_Mutation	SNP	G	G	A	rs189355507		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr6:74079407G>A	ENST00000370359.5	-	1	108	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	OOEP_ENST00000370363.1_Intron|OOEP-AS1_ENST00000445350.2_RNA	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein	37					cellular protein complex assembly (GO:0043623)|embryo implantation (GO:0007566)|embryonic pattern specification (GO:0009880)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|protein phosphorylation (GO:0006468)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|protein complex (GO:0043234)	RNA binding (GO:0003723)			large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						CACCAGGGCCGGATGCGAATC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		16837	0.001		0.0	False		,,,				2504	0.0					uc003pgu.3																			0					0						c.(109-111)CGG>TGG		oocyte expressed protein homolog							72.0	81.0	78.0					6																	74079407		2081	4230	6311	SO:0001583	missense	441161					cytoplasm		g.chr6:74079407G>A	BC024931	CCDS47451.1	6q13	2012-02-22	2012-02-22	2007-11-13	ENSG00000203907	ENSG00000203907			21382	protein-coding gene	gene with protein product	"""KH homology domain containing 2"""	611689	"""chromosome 6 open reading frame 156"", ""oocyte expressed protein homolog (dog)"""	C6orf156		17913455	Standard	NM_001080507		Approved	Em:AC019205.2, KHDC2	uc003pgu.4	A6NGQ2	OTTHUMG00000150057	ENST00000370359.5:c.109C>T	6.37:g.74079407G>A	ENSP00000359384:p.Arg37Trp					OOEP_uc003pgv.3_Intron	p.R37W	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN			1	109	-			37					A6NIN5|A9UIB7	Missense_Mutation	SNP	ENST00000370359.5	37	c.109C>T	CCDS47451.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	1	0.0013192612137203166	G	15.47	2.844032	0.51164	.	.	ENSG00000203907	ENST00000370359	T	0.13089	2.62	3.67	1.89	0.25635	.	.	.	.	.	T	0.02848	0.0085	L	0.32530	0.975	0.09310	N	1	P	0.40534	0.72	B	0.31751	0.135	T	0.37220	-0.9715	9	0.87932	D	0	.	5.605	0.17374	0.248:0.0:0.752:0.0	.	37	A6NGQ2	OOEP_HUMAN	W	37	ENSP00000359384:R37W	ENSP00000359384:R37W	R	-	1	2	OOEP	74136128	0.216000	0.23585	0.047000	0.18901	0.117000	0.20001	0.641000	0.24720	0.539000	0.28788	0.655000	0.94253	CGG		0.622	OOEP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108414.2	NM_001080507	
UST	10090	broad.mit.edu	37	6	149342488	149342488	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr6:149342488G>A	ENST00000367463.4	+	7	911	c.808G>A	c.(808-810)Gca>Aca	p.A270T		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	270					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		CCTTGAGAGAGCAAAGCTGAA	0.388																																						uc003qmg.2																			0				ovary(2)	2						c.(808-810)GCA>ACA		uronyl-2-sulfotransferase							80.0	72.0	75.0					6																	149342488		2203	4300	6503	SO:0001583	missense	10090				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity	g.chr6:149342488G>A	AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"""Sulfotransferases, membrane-bound"""	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.808G>A	6.37:g.149342488G>A	ENSP00000356433:p.Ala270Thr						p.A270T	NM_005715	NP_005706	Q9Y2C2	UST_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)	7	1104	+		Ovarian(120;0.0907)	270			Lumenal (Potential).		B2RCX6	Missense_Mutation	SNP	ENST00000367463.4	37	c.808G>A	CCDS5213.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994042	0.93167	.	.	ENSG00000111962	ENST00000367463	T	0.75050	-0.9	5.43	4.56	0.56223	.	0.050272	0.85682	D	0.000000	D	0.84602	0.5508	M	0.86343	2.81	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.87935	0.2713	10	0.72032	D	0.01	-6.7533	14.582	0.68298	0.0708:0.0:0.9292:0.0	.	270	Q9Y2C2	UST_HUMAN	T	270	ENSP00000356433:A270T	ENSP00000356433:A270T	A	+	1	0	UST	149384181	1.000000	0.71417	0.942000	0.38095	0.988000	0.76386	7.954000	0.87848	1.426000	0.47256	0.563000	0.77884	GCA		0.388	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043363.1	NM_005715	
PSPH	5723	broad.mit.edu	37	7	56087292	56087292	+	Splice_Site	DEL	C	C	-	rs139106189		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr7:56087292delC	ENST00000395471.3	-	5	1081		c.e5+1		PSPH_ENST00000275605.3_Splice_Site|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase						cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTTCCTCTTACCTTATGCCGG	0.577																																						uc003trg.2																			0				ovary(1)|skin(1)	2						c.e4+1		phosphoserine phosphatase							44.0	41.0	42.0					7																	56087292		2203	4300	6503	SO:0001630	splice_region_variant	5723				L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	g.chr7:56087292delC	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.275+1G>-	7.37:g.56087292delC						PSPH_uc003trh.2_Splice_Site_p.R92_splice|PSPH_uc003tri.2_Splice_Site_p.R92_splice|PSPH_uc003trj.2_Splice_Site_p.R121_splice	p.R92_splice	NM_004577	NP_004568	P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	638	-	Breast(14;0.214)							B2RCR5|Q7Z3S5	Splice_Site	DEL	ENST00000395471.3	37	c.275_splice	CCDS5522.1																																																																																				0.577	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577	Intron
CALN1	83698	broad.mit.edu	37	7	71571179	71571179	+	Silent	SNP	G	G	A	rs139754746		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr7:71571179G>A	ENST00000329008.5	-	3	517	c.219C>T	c.(217-219)agC>agT	p.S73S	CALN1_ENST00000431984.1_Silent_p.S73S|CALN1_ENST00000412588.1_Silent_p.S115S|CALN1_ENST00000395275.2_Silent_p.S115S|CALN1_ENST00000395276.2_Silent_p.S73S|CALN1_ENST00000405452.2_Silent_p.S73S	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	73	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCTCCACCTCGCTTGGCATGT	0.592													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13808	0.0		0.0	False		,,,				2504	0.0					uc003twa.3																			0				skin(1)	1						c.(217-219)AGC>AGT		calneuron 1 isoform 2		G	,	0,4406		0,0,2203	77.0	59.0	65.0		219,345	-6.3	0.1	7	dbSNP_134	65	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	CALN1	NM_001017440.2,NM_031468.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	73/220,115/262	71571179	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71571179G>A	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.219C>T	7.37:g.71571179G>A						CALN1_uc003twb.3_Silent_p.S115S|CALN1_uc003twc.3_Silent_p.S73S	p.S73S	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN			3	746	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	73			EF-hand 2.|Cytoplasmic (Potential).		J3KQA7	Silent	SNP	ENST00000329008.5	37	c.219C>T	CCDS5541.1																																																																																				0.592	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468	
GNAT3	346562	broad.mit.edu	37	7	80103615	80103615	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr7:80103615G>A	ENST00000398291.3	-	5	635	c.542C>T	c.(541-543)aCg>aTg	p.T181M	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	181					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						GATTCCAGTCGTTTTCACTCG	0.343																																						uc011kgu.1																			0				ovary(1)	1						c.(541-543)ACG>ATG		guanine nucleotide binding protein, alpha							73.0	69.0	70.0					7																	80103615		1848	4102	5950	SO:0001583	missense	346562				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:80103615G>A		CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.542C>T	7.37:g.80103615G>A	ENSP00000381339:p.Thr181Met					CD36_uc003uhc.2_Intron	p.T181M	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN			5	542	-			181			GTP (By similarity).	Magnesium (By similarity).	A4D1B2|A4D1B3|B9EJG5	Missense_Mutation	SNP	ENST00000398291.3	37	c.542C>T	CCDS47625.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915663	0.92178	.	.	ENSG00000214415	ENST00000398291	D	0.95918	-3.85	5.99	5.99	0.97316	G protein alpha subunit, helical insertion (1);	0.000000	0.85682	U	0.000000	D	0.98994	0.9657	H	0.99435	4.565	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98886	1.0771	9	.	.	.	.	20.074	0.97736	0.0:0.0:1.0:0.0	.	181	A8MTJ3	GNAT3_HUMAN	M	181	ENSP00000381339:T181M	.	T	-	2	0	GNAT3	79941551	1.000000	0.71417	0.971000	0.41717	0.975000	0.68041	9.493000	0.97960	2.853000	0.98044	0.655000	0.94253	ACG		0.343	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370	
TRRAP	8295	broad.mit.edu	37	7	98609721	98609721	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr7:98609721C>T	ENST00000359863.4	+	72	11532	c.11323C>T	c.(11323-11325)Cgg>Tgg	p.R3775W	TRRAP_ENST00000355540.3_Missense_Mutation_p.R3746W|AC004893.11_ENST00000360902.1_RNA|TRRAP_ENST00000446306.3_Missense_Mutation_p.R3764W	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3775	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AACGGTTCTCCGGGACGAGAT	0.547																																						uc003upp.2																			0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(11323-11325)CGG>TGG		transformation/transcription domain-associated							86.0	78.0	81.0					7																	98609721		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98609721C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.11323C>T	7.37:g.98609721C>T	ENSP00000352925:p.Arg3775Trp					TRRAP_uc011kis.1_Missense_Mutation_p.R3746W|TRRAP_uc003upr.2_Missense_Mutation_p.R3481W|TRRAP_uc003ups.2_5'Flank	p.R3775W	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		72	11532	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3775			PI3K/PI4K.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.11323C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131239	0.77549	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	D;D	0.81908	-1.55;-1.55	5.3	4.42	0.53409	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.067137	0.64402	D	0.000009	D	0.91747	0.7390	M	0.91612	3.225	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.91861	0.5499	10	0.54805	T	0.06	.	10.2137	0.43156	0.1357:0.7923:0.0:0.072	.	3746;3503;3775	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	W	3775;3746;3763	ENSP00000352925:R3775W;ENSP00000347733:R3746W	ENSP00000347733:R3746W	R	+	1	2	TRRAP	98447657	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	5.775000	0.68915	1.229000	0.43630	0.561000	0.74099	CGG		0.547	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
GJC3	349149	broad.mit.edu	37	7	99521178	99521178	+	Missense_Mutation	SNP	C	C	G	rs201992631		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr7:99521178C>G	ENST00000312891.2	-	2	829	c.830G>C	c.(829-831)aGa>aCa	p.R277T		NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	277					cell communication (GO:0007154)|myelination (GO:0042552)|sensory perception of sound (GO:0007605)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					tcaggcatctctgggtccaac	0.388																																						uc011kjd.1																			0				ovary(1)	1						c.(829-831)AGA>ACA		gap junction protein, gamma 3, 30.2kDa							119.0	110.0	113.0					7																	99521178		2203	4300	6503	SO:0001583	missense	349149					connexon complex|integral to membrane		g.chr7:99521178C>G	AF503615	CCDS34697.1	7q22.1	2008-09-04	2007-11-06	2007-11-06	ENSG00000176402	ENSG00000176402		"""Ion channels / Gap junction proteins (connexins)"""	17495	protein-coding gene	gene with protein product	"""connexin 30.2"""	611925	"""gap junction protein, epsilon 1, 29kDa"""	GJE1			Standard	NM_181538		Approved	CX30.2	uc011kjd.2	Q8NFK1	OTTHUMG00000156649	ENST00000312891.2:c.830G>C	7.37:g.99521178C>G	ENSP00000325775:p.Arg277Thr						p.R277T	NM_181538	NP_853516	Q8NFK1	CXG3_HUMAN			2	830	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		277			Cytoplasmic (Potential).		A4D296|Q86XI9	Missense_Mutation	SNP	ENST00000312891.2	37	c.830G>C	CCDS34697.1	.	.	.	.	.	.	.	.	.	.	C	4.902	0.167623	0.09339	.	.	ENSG00000176402	ENST00000312891	D	0.97924	-4.61	0.235	-0.47	0.12131	.	.	.	.	.	D	0.90868	0.7131	N	0.08118	0	0.20563	N	0.99989	B	0.02656	0.0	B	0.01281	0.0	T	0.81870	-0.0734	8	0.48119	T	0.1	.	.	.	.	.	277	Q8NFK1	CXG3_HUMAN	T	277	ENSP00000325775:R277T	ENSP00000325775:R277T	R	-	2	0	GJC3	99359114	0.153000	0.22777	0.563000	0.28383	0.572000	0.35998	-1.746000	0.01829	-0.808000	0.04387	-0.802000	0.03209	AGA		0.388	GJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345052.1	NM_181538	
MUC17	140453	broad.mit.edu	37	7	100684383	100684383	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr7:100684383T>C	ENST00000306151.4	+	3	9750	c.9686T>C	c.(9685-9687)gTc>gCc	p.V3229A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3229	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTGTACCTGTCAGCAACACG	0.478																																						uc003uxp.1																			0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(9685-9687)GTC>GCC		mucin 17 precursor							259.0	266.0	264.0					7																	100684383		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684383T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9686T>C	7.37:g.100684383T>C	ENSP00000302716:p.Val3229Ala					MUC17_uc010lho.1_RNA	p.V3229A	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	9739	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3229			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|52.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9686T>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	t	5.917	0.353343	0.11182	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	0.656	-1.31	0.09230	.	.	.	.	.	T	0.03053	0.0090	N	0.04880	-0.145	0.09310	N	1	P	0.43392	0.805	P	0.59424	0.857	T	0.16897	-1.0387	9	0.06099	T	0.92	.	2.6112	0.04891	0.2679:0.4811:0.0:0.251	.	3229	Q685J3	MUC17_HUMAN	A	3229	ENSP00000302716:V3229A	ENSP00000302716:V3229A	V	+	2	0	MUC17	100471103	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.864000	0.01650	-1.155000	0.02822	0.113000	0.15668	GTC		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
ADAM2	2515	broad.mit.edu	37	8	39678526	39678526	+	Missense_Mutation	SNP	C	C	T	rs377755123		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr8:39678526C>T	ENST00000265708.4	-	6	611	c.508G>A	c.(508-510)Gta>Ata	p.V170I	ADAM2_ENST00000379853.2_Missense_Mutation_p.V170I|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000347580.4_Missense_Mutation_p.V170I|ADAM2_ENST00000521880.1_Missense_Mutation_p.V170I	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	170				V -> A (in Ref. 2; AAD04206). {ECO:0000305}.	adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CCTACCTCTACGCTTTGTAAT	0.294																																						uc003xnj.2																			0				ovary(1)|lung(1)	2						c.(508-510)GTA>ATA		ADAM metallopeptidase domain 2 proprotein							83.0	86.0	85.0					8																	39678526		2202	4294	6496	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39678526C>T	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.508G>A	8.37:g.39678526C>T	ENSP00000265708:p.Val170Ile					ADAM2_uc003xnk.2_Missense_Mutation_p.V170I|ADAM2_uc011lck.1_Missense_Mutation_p.V170I|ADAM2_uc003xnl.2_Missense_Mutation_p.V170I	p.V170I	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	6	583	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	170	V -> A (in Ref. 2; AAD04206).				P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.508G>A	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	C	9.523	1.108927	0.20714	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.66099	5.08;-0.19;5.28;5.25	5.47	-10.9	0.00192	.	.	.	.	.	T	0.34221	0.0890	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.36962	-0.9726	8	.	.	.	.	14.9088	0.70740	0.096:0.6698:0.0:0.2341	.	170;170;170;170	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	I	170	ENSP00000343854:V170I;ENSP00000369182:V170I;ENSP00000265708:V170I;ENSP00000429352:V170I	.	V	-	1	0	ADAM2	39797683	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.721000	0.00811	-1.902000	0.01094	-1.708000	0.00717	GTA		0.294	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464	
RORB	6096	broad.mit.edu	37	9	77249548	77249548	+	Splice_Site	SNP	G	G	T	rs143312543		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr9:77249548G>T	ENST00000396204.2	+	3	128	c.128G>T	c.(127-129)gGa>gTa	p.G43V	RORB_ENST00000376896.3_Splice_Site_p.G32V			Q92753	RORB_HUMAN	RAR-related orphan receptor B	43					amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.G32E(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	TCCCTCAAGGGATTCTTTAGG	0.413																																						uc004aji.2																			1	Substitution - Missense(1)	p.G32E(1)	skin(1)	ovary(2)|lung(1)|skin(1)	4						c.(127-129)GGA>GTA		RAR-related orphan receptor B							36.0	36.0	36.0					9																	77249548		2203	4300	6503	SO:0001630	splice_region_variant	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77249548G>T	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.127-1G>T	9.37:g.77249548G>T						RORB_uc004ajh.2_Missense_Mutation_p.G32V	p.G43V	NM_006914	NP_008845	Q92753	RORB_HUMAN			3	177	+			43			Nuclear receptor.		Q8WX73	Missense_Mutation	SNP	ENST00000396204.2	37	c.128G>T		.	.	.	.	.	.	.	.	.	.	G	22.8	4.333874	0.81801	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	D;D	0.97772	-4.53;-4.53	5.82	4.92	0.64577	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.046500	0.85682	D	0.000000	D	0.98523	0.9507	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	D	0.99577	1.0972	10	0.87932	D	0	.	14.6496	0.68786	0.0693:0.0:0.9307:0.0	.	43;32	Q92753;Q58EY0	RORB_HUMAN;.	V	32;43	ENSP00000366093:G32V;ENSP00000379507:G43V	ENSP00000366093:G32V	G	+	2	0	RORB	76439368	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.860000	0.99555	1.468000	0.48064	0.655000	0.94253	GGA		0.413	RORB-201	KNOWN	basic	protein_coding	protein_coding			Missense_Mutation
BICD2	23299	broad.mit.edu	37	9	95481024	95481024	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr9:95481024G>A	ENST00000375512.3	-	5	1970	c.1903C>T	c.(1903-1905)Cgt>Tgt	p.R635C	BICD2_ENST00000356884.6_Missense_Mutation_p.R635C	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	635					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATCTGGTCACGGATGATAGCG	0.652																																						uc004aso.1																			0				skin(1)	1						c.(1903-1905)CGT>TGT		bicaudal D homolog 2 isoform 2							107.0	103.0	105.0					9																	95481024		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95481024G>A	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1903C>T	9.37:g.95481024G>A	ENSP00000364662:p.Arg635Cys					BICD2_uc004asp.1_Missense_Mutation_p.R635C	p.R635C	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN			5	1960	-			635					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.1903C>T	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606858	0.66558	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.53423	0.62;0.62	5.03	4.07	0.47477	.	0.060107	0.64402	D	0.000004	T	0.67998	0.2953	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72340	-0.4323	10	0.87932	D	0	-15.392	12.2397	0.54536	0.0:0.0:0.8292:0.1708	.	635;635	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	C	635	ENSP00000349351:R635C;ENSP00000364662:R635C	ENSP00000349351:R635C	R	-	1	0	BICD2	94520845	1.000000	0.71417	0.997000	0.53966	0.858000	0.48976	3.676000	0.54612	2.516000	0.84829	0.561000	0.74099	CGT		0.652	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250	
CYLC2	1539	broad.mit.edu	37	9	105767590	105767590	+	Missense_Mutation	SNP	A	A	C			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr9:105767590A>C	ENST00000374798.3	+	5	747	c.677A>C	c.(676-678)aAg>aCg	p.K226T	CYLC2_ENST00000487798.1_Missense_Mutation_p.K226T	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	226	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GATTCAAAGAAGGGCAAGGAT	0.373																																						uc004bbs.2																			0				skin(1)	1						c.(676-678)AAG>ACG		cylicin 2							87.0	83.0	84.0					9																	105767590		2203	4300	6503	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767590A>C	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.677A>C	9.37:g.105767590A>C	ENSP00000420256:p.Lys226Thr						p.K226T	NM_001340	NP_001331	Q14093	CYLC2_HUMAN			5	747	+		all_hematologic(171;0.125)	226			3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.|3.		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.677A>C	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.813903	0.32053	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.16196	2.36;2.36	4.51	3.38	0.38709	.	0.000000	0.48286	D	0.000190	T	0.33585	0.0868	M	0.80422	2.495	0.09310	N	1	D	0.67145	0.996	P	0.62740	0.906	T	0.12167	-1.0558	10	0.30078	T	0.28	-15.0606	5.8153	0.18490	0.7927:0.0:0.2073:0.0	.	226	Q14093	CYLC2_HUMAN	T	226	ENSP00000420256:K226T;ENSP00000417674:K226T	ENSP00000420256:K226T	K	+	2	0	CYLC2	104807411	0.145000	0.22656	0.060000	0.19600	0.216000	0.24613	1.530000	0.36007	0.878000	0.35920	0.477000	0.44152	AAG		0.373	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340	
TUBBP5	643224	broad.mit.edu	37	9	141071239	141071240	+	RNA	INS	-	-	GCT			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr9:141071239_141071240insGCT	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5																		CCTTGACTGTGGCTGAGCTCAC	0.624																																						uc004com.2																			0					0						c.(640-645)insGCT		RecName: Full=Putative tubulin beta-4q chain;																																						643224							g.chr9:141071239_141071240insGCT	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141071240_141071242dupGCT						TUBBP5_uc010ncq.2_3'UTR	p.215_216insA							4	903_904	+									In_Frame_Ins	INS	ENST00000503395.1	37	c.642_643insGCT																																																																																					0.624	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156	
KIAA2022	340533	broad.mit.edu	37	X	73961437	73961437	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chrX:73961437C>T	ENST00000055682.6	-	3	3566	c.2955G>A	c.(2953-2955)atG>atA	p.M985I		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	985					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GACCATCATCCATATTGACTG	0.448																																						uc004eby.2																			0				ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(2953-2955)ATG>ATA		hypothetical protein LOC340533							81.0	70.0	74.0					X																	73961437		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73961437C>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2955G>A	X.37:g.73961437C>T	ENSP00000055682:p.Met985Ile						p.M985I	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	3572	-			985					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.2955G>A	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	9.481	1.098241	0.20552	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.28666	1.6;1.6	5.58	-0.23	0.13090	.	0.415259	0.27831	N	0.017664	T	0.11922	0.0290	N	0.08118	0	0.20975	N	0.999819	B	0.02656	0.0	B	0.01281	0.0	T	0.13388	-1.0511	10	0.72032	D	0.01	1.7809	2.5079	0.04649	0.1195:0.3691:0.1167:0.3946	.	985	Q5QGS0	K2022_HUMAN	I	985	ENSP00000362567:M985I;ENSP00000055682:M985I	ENSP00000055682:M985I	M	-	3	0	KIAA2022	73878162	0.997000	0.39634	0.035000	0.18076	0.899000	0.52679	0.408000	0.21065	-0.093000	0.12396	0.600000	0.82982	ATG		0.448	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537	
IRS4	8471	broad.mit.edu	37	X	107977902	107977902	+	Nonsense_Mutation	SNP	G	G	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chrX:107977902G>T	ENST00000372129.2	-	1	1749	c.1673C>A	c.(1672-1674)tCa>tAa	p.S558*	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	558					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCCACCACCTGAACCGTGCCC	0.657																																						uc004eoc.2																			0				ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(1672-1674)TCA>TAA		insulin receptor substrate 4							117.0	118.0	118.0					X																	107977902		2203	4300	6503	SO:0001587	stop_gained	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977902G>T	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1673C>A	X.37:g.107977902G>T	ENSP00000361202:p.Ser558*						p.S558*	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	1706	-			558						Nonsense_Mutation	SNP	ENST00000372129.2	37	c.1673C>A	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	36	5.733969	0.96865	.	.	ENSG00000133124	ENST00000372129	.	.	.	4.88	4.88	0.63580	.	0.173539	0.38837	N	0.001547	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-11.6804	12.2979	0.54859	0.0:0.0:1.0:0.0	.	.	.	.	X	558	.	ENSP00000361202:S558X	S	-	2	0	IRS4	107864558	0.981000	0.34729	0.091000	0.20842	0.719000	0.41307	7.066000	0.76734	2.392000	0.81423	0.600000	0.82982	TCA		0.657	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604	
