#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G	rs113380635		TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RNU6-1268P_ENST00000391214.1_RNA|RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(922-924)gTt>gCt		POTE ankyrin domain family, member M							42.0	37.0	39.0					14																	20010235		365	763	1128	SO:0001583	missense	641455							g.chr14:20010235A>G		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.923T>C	14.37:g.20010235A>G	ENSP00000452296:p.Val308Ala					RP11-244H18.1_ENST00000547584.1_lincRNA	p.V308A	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			5	974	-			308						Missense_Mutation	SNP	ENST00000551509.1	37	c.923T>C	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	g	5.617	0.298596	0.10622	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.60040	0.22	0.906	0.906	0.19314	Ankyrin repeat-containing domain (4);	0.000000	0.32655	N	0.005811	T	0.10723	0.0262	N	0.00039	-2.51	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.25187	-1.0139	8	.	.	.	.	3.4158	0.07375	0.2955:0.0:0.7045:0.0	.	308	A6NI47	POTEM_HUMAN	A	308;393;308	ENSP00000452296:V308A	.	V	-	2	0	POTEM	19080235	0.621000	0.27077	0.813000	0.32504	0.042000	0.13812	0.922000	0.28734	-0.020000	0.14032	-1.160000	0.01791	GTT		0.368	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		3	55	0	0	0	0.115264	0	3	55				
GRM4	2914	broad.mit.edu	37	6	34004179	34004179	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr6:34004179G>A	ENST00000538487.2	-	9	2151	c.1708C>T	c.(1708-1710)Cgc>Tgc	p.R570C	GRM4_ENST00000609222.1_Missense_Mutation_p.R437C|GRM4_ENST00000535756.1_Missense_Mutation_p.R437C|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000544773.2_Missense_Mutation_p.R401C|GRM4_ENST00000455714.2_Missense_Mutation_p.R430C|GRM4_ENST00000374177.3_Missense_Mutation_p.R454C|GRM4_ENST00000374181.4_Missense_Mutation_p.R570C	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	570					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.R570C(2)|p.R454C(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CAGCCCGTGCGGTTCTCTGTG	0.652																																						ENST00000374181.3																			3	Substitution - Missense(3)	p.R570C(2)|p.R454C(1)	prostate(3)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1708-1710)Cgc>Tgc		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						53.0	47.0	49.0					6																	34004179		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34004179G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1708C>T	6.37:g.34004179G>A	ENSP00000440556:p.Arg570Cys					GRM4_ENST00000455714.2_Missense_Mutation_p.R430C|GRM4_ENST00000544773.1_Missense_Mutation_p.R401C|GRM4_ENST00000538487.1_Missense_Mutation_p.R570C|GRM4_ENST00000545715.1_Missense_Mutation_p.R262C|GRM4_ENST00000535756.1_Missense_Mutation_p.R437C|GRM4_ENST00000374177.3_Missense_Mutation_p.R454C	p.R570C	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			8	1877	-			570					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.1708C>T	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953696	0.73902	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.90197	-2.62;-2.63;-2.37;-2.42;-2.44;-2.62;-2.46	4.81	4.81	0.61882	.	0.108147	0.64402	D	0.000005	D	0.92964	0.7761	M	0.80422	2.495	0.52099	D	0.999941	P;P;D;D;P	0.65815	0.897;0.897;0.995;0.991;0.94	B;B;P;B;B	0.53861	0.203;0.191;0.736;0.446;0.134	D	0.93761	0.7067	10	0.72032	D	0.01	.	17.6697	0.88213	0.0:0.0:1.0:0.0	.	523;401;430;570;437	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	C	570;454;262;437;401;570;430	ENSP00000363296:R570C;ENSP00000363292:R454C;ENSP00000445533:R262C;ENSP00000437925:R437C;ENSP00000437730:R401C;ENSP00000440556:R570C;ENSP00000398456:R430C	ENSP00000363292:R454C	R	-	1	0	GRM4	34112157	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.653000	0.83643	2.494000	0.84150	0.448000	0.29417	CGC		0.652	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			15	38	0	0	0	0.520397	0	15	38				
AP3B2	8120	broad.mit.edu	37	15	83346500	83346500	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr15:83346500C>A	ENST00000261722.3	-	12	1508	c.1301G>T	c.(1300-1302)gGa>gTa	p.G434V	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.G434V|AP3B2_ENST00000535348.1_Missense_Mutation_p.G402V	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	434					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.G433V(1)|p.G434V(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TGCACAGCGTCCAATGGCCTG	0.537																																						ENST00000261722.3																			2	Substitution - Missense(2)	p.G433V(1)|p.G434V(1)	prostate(2)	breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41						c.(1300-1302)gGa>gTa		adaptor-related protein complex 3, beta 2 subunit							46.0	50.0	49.0					15																	83346500		2113	4232	6345	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83346500C>A	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.1301G>T	15.37:g.83346500C>A	ENSP00000261722:p.Gly434Val					AP3B2_ENST00000535348.1_Missense_Mutation_p.G402V|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.G434V	p.G434V	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		12	1508	-			434					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.1301G>T	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415553	0.83449	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.15952	2.38;2.38;2.38	4.98	4.07	0.47477	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53286	0.1787	H	0.95260	3.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.999	T	0.68595	-0.5367	10	0.87932	D	0	-11.4066	13.5112	0.61513	0.0:0.9249:0.0:0.0751	.	402;434;434	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	V	434;402;434	ENSP00000261722:G434V;ENSP00000438721:G402V;ENSP00000440984:G434V	ENSP00000261722:G434V	G	-	2	0	AP3B2	81143555	1.000000	0.71417	0.963000	0.40424	0.997000	0.91878	7.627000	0.83176	1.339000	0.45563	0.655000	0.94253	GGA		0.537	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			4	14	1	0	0.00024832	0.150653	0.00029289	4	14				
IGHV3-9	28451	broad.mit.edu	37	14	106552556	106552556	+	RNA	SNP	C	C	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr14:106552556C>A	ENST00000390600.2	-	0	162									immunoglobulin heavy variable 3-9																		TACCAAGCCTCCCCCAGACTC	0.557																																						ENST00000390600.2																			0																				92.0	68.0	76.0					14																	106552556		1846	3500	5346			0							g.chr14:106552556C>A	M99651		14q32.33	2012-02-08			ENSG00000211940			"""Immunoglobulins / IGH locus"""	5628	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152291		14.37:g.106552556C>A														0	162	-									RNA	SNP	ENST00000390600.2	37																																																																																						0.557	IGHV3-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325679.1	NG_001019		17	66	1	0	3.32936e-07	0.539581	4.1392e-07	17	66				
SPTBN1	6711	broad.mit.edu	37	2	54753666	54753666	+	Silent	SNP	G	G	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr2:54753666G>A	ENST00000356805.4	+	2	392	c.111G>A	c.(109-111)gcG>gcA	p.A37A	AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	37	Actin-binding.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.A37A(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACAGCTCTGCGCGGCTTTTTG	0.532																																						ENST00000356805.4																			1	Substitution - coding silent(1)	p.A37A(1)	prostate(1)	NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(109-111)gcG>gcA		spectrin, beta, non-erythrocytic 1							123.0	112.0	116.0					2																	54753666		2203	4300	6503	SO:0001819	synonymous_variant	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54753666G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.111G>A	2.37:g.54753666G>A						AC092839.3_ENST00000433475.1_RNA	p.A37A	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		2	392	+			37			Actin-binding.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.111G>A	CCDS33198.1																																																																																				0.532	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			16	54	0	0	0	0.520397	0	16	54				
KRTAP5-9	3846	broad.mit.edu	37	11	71259904	71259904	+	Silent	SNP	C	C	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr11:71259904C>T	ENST00000528743.2	+	1	439	c.201C>T	c.(199-201)ggC>ggT	p.G67G		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	67	8 X 4 AA repeats of C-C-X-P.				epidermis development (GO:0008544)	keratin filament (GO:0045095)		p.G67G(1)		kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						CCTGTGGGGGCTCCAAGGGAG	0.627																																						ENST00000528743.2																			1	Substitution - coding silent(1)	p.G67G(1)	prostate(1)	kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						c.(199-201)ggC>ggT		keratin associated protein 5-9							98.0	114.0	108.0					11																	71259904		2200	4293	6493	SO:0001819	synonymous_variant	3846				epidermis development	keratin filament		g.chr11:71259904C>T	AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"""Keratin associated proteins"""	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.201C>T	11.37:g.71259904C>T							p.G67G	NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN			1	439	+			67			8 X 4 AA repeats of C-C-X-P.		Q14564|Q3MIP8	Silent	SNP	ENST00000528743.2	37	c.201C>T	CCDS53677.1																																																																																				0.627	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393901.2			8	159	0	0	0	0.335167	0	8	159				
MORF4L1	10933	broad.mit.edu	37	15	79177371	79177371	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr15:79177371T>C	ENST00000331268.5	+	4	422	c.218T>C	c.(217-219)cTt>cCt	p.L73P	MORF4L1_ENST00000558746.1_Intron|MORF4L1_ENST00000559345.1_Intron|MORF4L1_ENST00000379535.4_Intron|MORF4L1_ENST00000426013.2_Intron|MORF4L1_ENST00000558502.1_Intron|MORF4L1_ENST00000561171.1_Intron	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	73					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)	p.L73P(1)		breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						ATTGTAGCCCTTTTTCCTGTT	0.443																																						ENST00000331268.5																			1	Substitution - Missense(1)	p.L73P(1)	prostate(1)	breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						c.(217-219)cTt>cCt		mortality factor 4 like 1							129.0	116.0	120.0					15																	79177371		2196	4293	6489	SO:0001583	missense	10933				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	g.chr15:79177371T>C	AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.218T>C	15.37:g.79177371T>C	ENSP00000331310:p.Leu73Pro					MORF4L1_ENST00000379535.4_Intron|MORF4L1_ENST00000426013.2_Intron|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000559345.1_Intron|MORF4L1_ENST00000558746.1_Intron|MORF4L1_ENST00000558502.1_Intron	p.L73P	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN			4	422	+			73					B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	ENST00000331268.5	37	c.218T>C	CCDS10307.1	.	.	.	.	.	.	.	.	.	.	T	11.43	1.635762	0.29068	.	.	ENSG00000185787	ENST00000331268	T	0.31247	1.5	6.03	-0.384	0.12474	Chromo domain-like (1);	0.394014	0.19707	N	0.107905	T	0.11922	0.0290	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11916	-1.0568	10	0.30078	T	0.28	1.9655	4.4834	0.11778	0.1393:0.313:0.0:0.5477	.	73	Q9UBU8	MO4L1_HUMAN	P	73	ENSP00000331310:L73P	ENSP00000331310:L73P	L	+	2	0	MORF4L1	76964426	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	1.299000	0.33424	-0.310000	0.08766	0.533000	0.62120	CTT		0.443	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000290131.4	NM_006791		3	93	0	0	0	0.150653	0	3	93				
IQGAP1	8826	broad.mit.edu	37	15	91027480	91027480	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr15:91027480C>G	ENST00000268182.5	+	30	3941	c.3817C>G	c.(3817-3819)Cca>Gca	p.P1273A	IQGAP1_ENST00000560738.1_Missense_Mutation_p.P701A	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1273	C1.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.P1273A(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTGTGATGTCCCAGAGCTTCA	0.423																																						ENST00000268182.5																			1	Substitution - Missense(1)	p.P1273A(1)	prostate(1)	breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(3817-3819)Cca>Gca		IQ motif containing GTPase activating protein 1							141.0	135.0	137.0					15																	91027480		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91027480C>G	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3817C>G	15.37:g.91027480C>G	ENSP00000268182:p.Pro1273Ala					IQGAP1_ENST00000560738.1_Missense_Mutation_p.P701A	p.P1273A	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		30	3941	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1273			C1.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.3817C>G	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654187	0.67472	.	.	ENSG00000140575	ENST00000268182	D	0.83419	-1.72	5.55	5.55	0.83447	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.118031	0.64402	D	0.000018	T	0.80199	0.4579	L	0.60957	1.885	0.80722	D	1	B	0.33883	0.43	B	0.26310	0.068	T	0.78593	-0.2144	10	0.38643	T	0.18	-12.8494	18.858	0.92260	0.0:1.0:0.0:0.0	.	1273	P46940	IQGA1_HUMAN	A	1273	ENSP00000268182:P1273A	ENSP00000268182:P1273A	P	+	1	0	IQGAP1	88828484	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.626000	0.83164	2.770000	0.95276	0.650000	0.86243	CCA		0.423	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		33	121	0	0	0	0.788014	0	33	121				
BEND6	221336	broad.mit.edu	37	6	56882125	56882125	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr6:56882125G>A	ENST00000370746.3	+	5	909	c.640G>A	c.(640-642)Gca>Aca	p.A214T	BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000545789.1_Missense_Mutation_p.A116T|BEND6_ENST00000370750.2_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	214	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)	p.A214T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						CCTGACAGGGGCAAAATCCTC	0.388																																						ENST00000370746.3																			1	Substitution - Missense(1)	p.A214T(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						c.(640-642)Gca>Aca		BEN domain containing 6							81.0	75.0	77.0					6																	56882125		1912	4129	6041	SO:0001583	missense	221336							g.chr6:56882125G>A	AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.640G>A	6.37:g.56882125G>A	ENSP00000359782:p.Ala214Thr					BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000545789.1_Missense_Mutation_p.A116T|BEND6_ENST00000484701.1_3'UTR	p.A214T	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN			5	909	+			214			BEN.		Q4G0W8|Q8N662|Q96NS6	Missense_Mutation	SNP	ENST00000370746.3	37	c.640G>A	CCDS43476.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	5.997249|5.997249	0.97184|0.97184	.|.	.|.	ENSG00000151917|ENSG00000151917	ENST00000322055|ENST00000370746;ENST00000545789	.|T;T	.|0.42900	.|0.96;0.96	4.78|4.78	4.78|4.78	0.61160|0.61160	.|BEN domain (2);	.|0.116326	.|0.38272	.|N	.|0.001746	.|T	.|0.31702	.|0.0805	N|N	0.08118|0.08118	0|0	0.40653|0.40653	D|D	0.982055|0.982055	.|D;D	.|0.69078	.|0.997;0.996	.|D;D	.|0.83275	.|0.996;0.99	.|T	.|0.27123	.|-1.0083	.|9	.|.	.|.	.|.	.|-21.5422	15.1125|15.1125	0.72368|0.72368	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|214;116	.|Q5SZJ8;Q5SZJ8-3	.|BEND6_HUMAN;.	.|T	-1|214;116	.|ENSP00000359782:A214T;ENSP00000439320:A116T	.|.	.|A	+|+	.|1	.|0	BEND6|BEND6	56990084|56990084	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.986000|0.986000	0.74619|0.74619	4.384000|4.384000	0.59607|0.59607	2.490000|2.490000	0.84030|0.84030	0.491000|0.491000	0.48974|0.48974	.|GCA		0.388	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731		3	30	0	0	0	0.115264	0	3	30				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	68	0	0	0	0.184627	0	3	68				
XPO4	64328	broad.mit.edu	37	13	21436893	21436893	+	Silent	SNP	G	G	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr13:21436893G>T	ENST00000255305.6	-	3	351	c.280C>A	c.(280-282)Cga>Aga	p.R94R	XPO4_ENST00000490513.1_5'UTR|XPO4_ENST00000400602.2_Silent_p.R94R			Q9C0E2	XPO4_HUMAN	exportin 4	94					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R67R(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AGGAATGTTCGCAGAGACTCG	0.433																																						ENST00000400602.2																			1	Substitution - coding silent(1)	p.R67R(1)	prostate(1)	breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(280-282)Cga>Aga		exportin 4							185.0	178.0	180.0					13																	21436893		1856	4097	5953	SO:0001819	synonymous_variant	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21436893G>T	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.280C>A	13.37:g.21436893G>T						XPO4_ENST00000255305.6_Silent_p.R94R|XPO4_ENST00000490513.1_5'UTR	p.R94R	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	3	315	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	94					Q5VUZ5|Q8N3V6|Q9H934	Silent	SNP	ENST00000255305.6	37	c.280C>A	CCDS41872.1																																																																																				0.433	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		9	257	1	0	2.17888e-05	0.335167	2.63759e-05	9	257				
TLE4	7091	broad.mit.edu	37	9	82320809	82320809	+	Silent	SNP	C	C	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr9:82320809C>T	ENST00000376552.2	+	10	1753	c.735C>T	c.(733-735)agC>agT	p.S245S	TLE4_ENST00000265284.6_Silent_p.S220S|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376537.4_Silent_p.S245S|TLE4_ENST00000376520.4_Silent_p.S245S|TLE4_ENST00000376534.4_5'UTR	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	245	CCN domain.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)	p.S245S(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGCAGGACAGCGATGGTGAGA	0.398																																						ENST00000376520.4																			2	Substitution - coding silent(2)	p.S245S(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(733-735)agC>agT		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							308.0	304.0	305.0					9																	82320809		1972	4175	6147	SO:0001819	synonymous_variant	7091							g.chr9:82320809C>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.735C>T	9.37:g.82320809C>T						TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376552.2_Silent_p.S245S|TLE4_ENST00000265284.6_Silent_p.S220S|TLE4_ENST00000376537.4_Silent_p.S245S	p.S245S			O60756	BCE1_HUMAN			10	1563	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	ENST00000376552.2	37	c.735C>T	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	C	7.218	0.596880	0.13875	.	.	ENSG00000106829	ENST00000496114	.	.	.	5.97	-7.78	0.01223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.3241	20.8932	0.99940	0.0:0.2288:0.0:0.7712	.	.	.	.	X	36	.	.	R	+	1	2	TLE4	81510629	0.008000	0.16893	0.269000	0.24586	0.806000	0.45545	-1.295000	0.02764	-1.787000	0.01268	-0.964000	0.02622	CGA		0.398	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		6	129	0	0	0	0.248553	0	6	129				
NGLY1	55768	broad.mit.edu	37	3	25778887	25778887	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr3:25778887T>C	ENST00000280700.5	-	6	1101	c.941A>G	c.(940-942)aAt>aGt	p.N314S	NGLY1_ENST00000422724.2_Missense_Mutation_p.I163V|NGLY1_ENST00000428257.1_Missense_Mutation_p.N314S|NGLY1_ENST00000396649.3_Missense_Mutation_p.N314S|NGLY1_ENST00000417874.2_Missense_Mutation_p.N272S	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	314					glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)	p.N314S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TGTAAAACAATTGGCCCACTC	0.413																																						ENST00000428257.1																			1	Substitution - Missense(1)	p.N314S(1)	prostate(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						c.(940-942)aAt>aGt		N-glycanase 1							97.0	92.0	93.0					3																	25778887		2203	4300	6503	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25778887T>C	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.941A>G	3.37:g.25778887T>C	ENSP00000280700:p.Asn314Ser					NGLY1_ENST00000280700.5_Missense_Mutation_p.N314S|NGLY1_ENST00000417874.2_Missense_Mutation_p.N272S|NGLY1_ENST00000422724.2_Missense_Mutation_p.I163V|NGLY1_ENST00000396649.3_Missense_Mutation_p.N314S	p.N314S	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN			6	1048	-			314					B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.941A>G	CCDS33719.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.46|18.46	3.629912|3.629912	0.67015|0.67015	.|.	.|.	ENSG00000151092|ENSG00000151092	ENST00000422724|ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000417874	.|T;T;T;T;T	.|0.19938	.|2.11;2.11;2.11;2.11;2.11	5.21|5.21	5.21|5.21	0.72293|0.72293	.|Transglutaminase-like (2);	.|0.039044	.|0.85682	.|D	.|0.000000	T|T	0.48205|0.48205	0.1487|0.1487	M|M	0.79258|0.79258	2.445|2.445	0.29190|0.29190	N|N	0.875941|0.875941	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.997;0.997;0.992;1.0	T|T	0.50625|0.50625	-0.8806|-0.8806	6|9	0.21014|.	T|.	0.42|.	-20.7453|-20.7453	15.3861|15.3861	0.74703|0.74703	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|272;314;314;314	.|B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.|.;.;.;NGLY1_HUMAN	V|S	163|314;314;314;311;272	.|ENSP00000387430:N314S;ENSP00000280700:N314S;ENSP00000379886:N314S;ENSP00000307980:N311S;ENSP00000389888:N272S	ENSP00000395878:I163V|.	I|N	-|-	1|2	0|0	NGLY1|NGLY1	25753891|25753891	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.769000|7.769000	0.85360|0.85360	2.073000|2.073000	0.62155|0.62155	0.533000|0.533000	0.62120|0.62120	ATT|AAT		0.413	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			8	61	0	0	0	0.307466	0	8	61				
TPO	7173	broad.mit.edu	37	2	1499889	1499889	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr2:1499889G>A	ENST00000345913.4	+	12	2226	c.2135G>A	c.(2134-2136)gGc>gAc	p.G712D	TPO_ENST00000346956.3_Missense_Mutation_p.G712D|TPO_ENST00000329066.4_Missense_Mutation_p.G712D|TPO_ENST00000382201.3_Missense_Mutation_p.G655D|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.G539D|TPO_ENST00000337415.3_Missense_Mutation_p.G712D|TPO_ENST00000349624.3_Missense_Mutation_p.G539D	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	712					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.G712D(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTCCAAGTCGGCAAATTCCCC	0.562																																						ENST00000345913.4																			1	Substitution - Missense(1)	p.G712D(1)	prostate(1)	breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2134-2136)gGc>gAc		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						65.0	63.0	64.0					2																	1499889		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1499889G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2135G>A	2.37:g.1499889G>A	ENSP00000318820:p.Gly712Asp					TPO_ENST00000346956.3_Missense_Mutation_p.G712D|TPO_ENST00000382198.1_Missense_Mutation_p.G539D|TPO_ENST00000382201.3_Missense_Mutation_p.G655D|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.G539D|TPO_ENST00000337415.3_Missense_Mutation_p.G712D|TPO_ENST00000329066.4_Missense_Mutation_p.G712D	p.G712D	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	12	2226	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	712					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.2135G>A	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.67|12.67	2.006722|2.006722	0.35415|0.35415	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000446278|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	.|T;T;T;T;T;T;T;T;T	.|0.72725	.|-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	4.59|4.59	2.69|2.69	0.31865|0.31865	.|.	.|0.342412	.|0.35772	.|N	.|0.002998	T|T	0.80732|0.80732	0.4679|0.4679	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.985;0.999;0.974;0.975	.|P;D;P;P	.|0.71414	.|0.897;0.973;0.795;0.793	T|T	0.78580|0.78580	-0.2149|-0.2149	5|10	.|0.42905	.|T	.|0.14	-12.3263|-12.3263	11.0847|11.0847	0.48080|0.48080	0.0:0.1398:0.7149:0.1453|0.0:0.1398:0.7149:0.1453	.|.	.|712;539;655;712	.|P07202-4;P07202-5;P07202-2;P07202	.|.;.;.;PERT_HUMAN	T|D	187|712;712;712;539;712;655;539;641;186	.|ENSP00000337263:G712D;ENSP00000318820:G712D;ENSP00000263886:G712D;ENSP00000332044:G539D;ENSP00000329869:G712D;ENSP00000371636:G655D;ENSP00000371633:G539D;ENSP00000405788:G641D;ENSP00000419461:G186D	.|ENSP00000329869:G712D	A|G	+|+	1|2	0|0	TPO|TPO	1478896|1478896	0.946000|0.946000	0.32159|0.32159	0.001000|0.001000	0.08648|0.08648	0.002000|0.002000	0.02628|0.02628	2.236000|2.236000	0.43052|0.43052	0.430000|0.430000	0.26230|0.26230	0.561000|0.561000	0.74099|0.74099	GCA|GGC		0.562	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		3	49	0	0	0	0.115264	0	3	49				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	67	0	0	0	0.184627	0	3	67				
C20orf194	25943	broad.mit.edu	37	20	3236652	3236652	+	Splice_Site	SNP	C	C	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr20:3236652C>G	ENST00000252032.9	-	34	3328	c.3261G>C	c.(3259-3261)caG>caC	p.Q1087H	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	1087								p.Q1087H(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TGGAAACCACCTGCTTAGCTG	0.597																																						ENST00000252032.9																			1	Substitution - Missense(1)	p.Q1087H(1)	prostate(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						c.e34+1		chromosome 20 open reading frame 194							44.0	46.0	45.0					20																	3236652		2080	4213	6293	SO:0001630	splice_region_variant	25943							g.chr20:3236652C>G	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.3261+1G>C	20.37:g.3236652C>G						C20orf194_ENST00000453730.2_3'UTR	p.Q1087_splice	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN			34	3328	-			1087					Q66K86|Q6P2R9|Q9UFX9	Splice_Site	SNP	ENST00000252032.9	37	c.3261_splice	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556738	0.86231	.	.	ENSG00000088854	ENST00000252032	T	0.23348	1.91	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.51924	0.1703	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.994	T	0.42582	-0.9443	9	.	.	.	.	19.6747	0.95926	0.0:1.0:0.0:0.0	.	826;1087	Q0IIP3;Q5TEA3	.;CT194_HUMAN	H	1087	ENSP00000252032:Q1087H	.	Q	-	3	2	C20orf194	3184652	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.171000	0.71926	2.654000	0.90174	0.643000	0.83706	CAG		0.597	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984	Missense_Mutation	8	27	0	0	0	0.278610	0	8	27				
CHAF1A	10036	broad.mit.edu	37	19	4442949	4442949	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr19:4442949C>T	ENST00000301280.5	+	15	2899	c.2798C>T	c.(2797-2799)tCc>tTc	p.S933F		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	933	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)	p.S933F(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCCGCTTCCGGAGCTGGG	0.672								Chromatin Structure																														ENST00000301280.5																			1	Substitution - Missense(1)	p.S933F(1)	prostate(1)	breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(2797-2799)tCc>tTc	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)							22.0	24.0	23.0					19																	4442949		2201	4298	6499	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4442949C>T	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2798C>T	19.37:g.4442949C>T	ENSP00000301280:p.Ser933Phe						p.S933F	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	15	2899	+		Hepatocellular(1079;0.137)	933			Binds to p60.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.2798C>T	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753857	0.49362	.	.	ENSG00000167670	ENST00000301280	T	0.28666	1.6	3.68	3.68	0.42216	.	.	.	.	.	T	0.30355	0.0762	L	0.57536	1.79	0.09310	N	1	P	0.44578	0.838	B	0.38562	0.276	T	0.22521	-1.0214	9	0.87932	D	0	-1.2356	11.2517	0.49031	0.0:1.0:0.0:0.0	.	933	Q13111	CAF1A_HUMAN	F	933	ENSP00000301280:S933F	ENSP00000301280:S933F	S	+	2	0	CHAF1A	4393949	0.012000	0.17670	0.002000	0.10522	0.021000	0.10359	3.308000	0.51896	1.769000	0.52152	0.313000	0.20887	TCC		0.672	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		5	18	0	0	0	0.278610	0	5	18				
SLC34A2	10568	broad.mit.edu	37	4	25678365	25678365	+	Silent	SNP	C	C	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr4:25678365C>T	ENST00000382051.3	+	13	2117	c.2067C>T	c.(2065-2067)gcC>gcT	p.A689A	SLC34A2_ENST00000504570.1_Silent_p.A688A|SLC34A2_ENST00000503434.1_Silent_p.A688A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	689					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.A689A(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				AATGCACGGCCTTGTAGGGGA	0.562			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	1	Substitution - coding silent(1)	p.A689A(1)	prostate(1)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(2065-2067)gcC>gcT		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							49.0	50.0	49.0					4																	25678365		2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25678365C>T	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.2067C>T	4.37:g.25678365C>T						SLC34A2_ENST00000504570.1_Silent_p.A688A|SLC34A2_ENST00000503434.1_Silent_p.A688A	p.A689A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			13	2117	+		Breast(46;0.0503)	689					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.2067C>T	CCDS3435.1																																																																																				0.562	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		12	56	0	0	0	0.411799	0	12	56				
TMEM184C	55751	broad.mit.edu	37	4	148545026	148545026	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr4:148545026T>G	ENST00000296582.3	+	2	739	c.165T>G	c.(163-165)ttT>ttG	p.F55L	TMEM184C_ENST00000508208.1_Missense_Mutation_p.F55L	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	55						integral component of membrane (GO:0016021)		p.F55L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						CTGGAATCTTTTTGCTGTTGA	0.323																																						ENST00000296582.3																			1	Substitution - Missense(1)	p.F55L(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						c.(163-165)ttT>ttG		transmembrane protein 184C							134.0	132.0	133.0					4																	148545026		2202	4300	6502	SO:0001583	missense	55751					integral to membrane		g.chr4:148545026T>G	AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"""transmembrane protein 34"""	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.165T>G	4.37:g.148545026T>G	ENSP00000296582:p.Phe55Leu					TMEM184C_ENST00000508208.1_Missense_Mutation_p.F55L	p.F55L	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN			2	739	+			55					D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	ENST00000296582.3	37	c.165T>G	CCDS3770.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.469537	0.84533	.	.	ENSG00000164168	ENST00000296582;ENST00000508208	T;T	0.47528	0.84;0.84	5.42	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.65760	0.2722	M	0.77616	2.38	0.58432	D	0.999999	D	0.71674	0.998	D	0.69654	0.965	T	0.66748	-0.5845	10	0.48119	T	0.1	-23.7472	11.2847	0.49216	0.0:0.0718:0.0:0.9282	.	55	Q9NVA4	T184C_HUMAN	L	55	ENSP00000296582:F55L;ENSP00000425940:F55L	ENSP00000296582:F55L	F	+	3	2	TMEM184C	148764476	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.847000	0.48270	1.004000	0.39156	0.455000	0.32223	TTT		0.323	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241		23	66	0	0	0	0.654019	0	23	66				
PTPRT	11122	broad.mit.edu	37	20	40735499	40735499	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr20:40735499T>G	ENST00000373187.1	-	24	3316	c.3317A>C	c.(3316-3318)aAt>aCt	p.N1106T	PTPRT_ENST00000373190.1_Missense_Mutation_p.N1105T|PTPRT_ENST00000373198.4_Missense_Mutation_p.N1125T|PTPRT_ENST00000373193.3_Missense_Mutation_p.N1109T|PTPRT_ENST00000356100.2_Missense_Mutation_p.N1115T|PTPRT_ENST00000373201.1_Missense_Mutation_p.N1096T|PTPRT_ENST00000373184.1_Missense_Mutation_p.N1116T			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1106	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.		N -> I (in a colorectal cancer; reduced phosphatase activity). {ECO:0000269|PubMed:15155950}.		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.N1128T(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CACCCCTTCATTCTCGGCCAT	0.562																																						ENST00000373198.3																			1	Substitution - Missense(1)	p.N1128T(1)	prostate(1)	NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(3382-3384)aAt>aCt		protein tyrosine phosphatase, receptor type, T							85.0	95.0	91.0					20																	40735499		2109	4247	6356	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40735499T>G	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3317A>C	20.37:g.40735499T>G	ENSP00000362283:p.Asn1106Thr					PTPRT_ENST00000373187.1_Missense_Mutation_p.N1106T|PTPRT_ENST00000356100.2_Missense_Mutation_p.N1115T|PTPRT_ENST00000373201.1_Missense_Mutation_p.N1096T|PTPRT_ENST00000373184.1_Missense_Mutation_p.N1116T|PTPRT_ENST00000373190.1_Missense_Mutation_p.N1105T|PTPRT_ENST00000373193.3_Missense_Mutation_p.N1109T	p.N1128T	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			25	3618	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1106			Tyrosine-protein phosphatase 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.3383A>C	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.997165	0.35226	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.41	5.41	0.78517	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.046866	0.85682	D	0.000000	T	0.20088	0.0483	N	0.12746	0.255	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.03524	-1.1028	10	0.36615	T	0.2	.	15.7427	0.77914	0.0:0.0:0.0:1.0	.	1128;1106	O14522-1;O14522	.;PTPRT_HUMAN	T	1105;1106;1109;1115;1128;1116;1096	ENSP00000362286:N1105T;ENSP00000362283:N1106T;ENSP00000362289:N1109T;ENSP00000348408:N1115T;ENSP00000362294:N1128T;ENSP00000362280:N1116T;ENSP00000362297:N1096T	ENSP00000348408:N1115T	N	-	2	0	PTPRT	40168913	0.923000	0.31300	0.998000	0.56505	0.954000	0.61252	1.712000	0.37940	2.178000	0.69098	0.482000	0.46254	AAT		0.562	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			4	103	0	0	0	0.184627	0	4	103				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs189343211		TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	57	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667																																						ENST00000391417.4																			4	Substitution - Missense(4)	p.S57P(4)	urinary_tract(2)|kidney(2)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(169-171)Tct>Cct		keratin associated protein 4-7							18.0	28.0	25.0					17																	39240627		691	1590	2281	SO:0001583	missense	100132476							g.chr17:39240627T>C	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.169T>C	17.37:g.39240627T>C	ENSP00000375236:p.Ser57Pro						p.S57P	NM_033061.3	NP_149050.3					1	169	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.169T>C	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0.387	-0.925721	0.02377	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.01272	5.07	3.6	-0.386	0.12466	.	1.254490	0.05892	N	0.628448	T	0.00695	0.0023	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.43572	-0.9383	9	0.02654	T	1	.	4.4551	0.11639	0.0:0.4346:0.1731:0.3923	.	57	Q9BYR0	KRA47_HUMAN	P	57	ENSP00000375236:S57P	ENSP00000375236:S57P	S	+	1	0	KRTAP4-9;KRTAP4-7	36494153	0.000000	0.05858	0.033000	0.17914	0.157000	0.22087	-0.806000	0.04525	0.004000	0.14682	0.374000	0.22700	TCT		0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			4	68	0	0	0	0.184627	0	4	68				
DDX60L	91351	broad.mit.edu	37	4	169300651	169300651	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr4:169300651T>C	ENST00000511577.1	-	32	4473	c.4226A>G	c.(4225-4227)tAt>tGt	p.Y1409C	DDX60L_ENST00000260184.7_Missense_Mutation_p.Y1409C			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1409							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.Y1409C(1)|p.Y1410C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTTATTTAAATAGTCCTAAAA	0.303																																						ENST00000511577.1																			2	Substitution - Missense(2)	p.Y1409C(1)|p.Y1410C(1)	prostate(2)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(4225-4227)tAt>tGt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							27.0	28.0	28.0					4																	169300651		1808	4071	5879	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169300651T>C	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.4226A>G	4.37:g.169300651T>C	ENSP00000422423:p.Tyr1409Cys					DDX60L_ENST00000260184.7_Missense_Mutation_p.Y1409C	p.Y1409C			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	32	4473	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1409					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.4226A>G		.	.	.	.	.	.	.	.	.	.	T	13.35	2.210380	0.39003	.	.	ENSG00000181381	ENST00000260184;ENST00000511577	T;T	0.19669	2.13;2.13	3.51	2.26	0.28386	.	.	.	.	.	T	0.41673	0.1169	M	0.75447	2.3	0.18873	N	0.999983	D	0.89917	1.0	D	0.69142	0.962	T	0.14117	-1.0484	9	0.54805	T	0.06	.	8.7263	0.34471	0.1704:0.0:0.0:0.8296	.	1409	Q5H9U9	DDX6L_HUMAN	C	1409	ENSP00000260184:Y1409C;ENSP00000422423:Y1409C	ENSP00000260184:Y1409C	Y	-	2	0	DDX60L	169537226	1.000000	0.71417	0.005000	0.12908	0.202000	0.24057	2.202000	0.42743	0.321000	0.23259	0.254000	0.18369	TAT		0.303	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		11	15	0	0	0	0.387290	0	11	15				
SLK	9748	broad.mit.edu	37	10	105761232	105761232	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr10:105761232C>A	ENST00000369755.3	+	8	1440	c.895C>A	c.(895-897)Ccc>Acc	p.P299T	SLK_ENST00000335753.4_Missense_Mutation_p.P299T	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	299					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.P299T(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTCCAACAAACCCATCCGAGA	0.388																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			1	Substitution - Missense(1)	p.P299T(1)	prostate(1)	kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(895-897)Ccc>Acc		STE20-like kinase							100.0	87.0	91.0					10																	105761232		2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105761232C>A		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.895C>A	10.37:g.105761232C>A	ENSP00000358770:p.Pro299Thr					SLK_ENST00000335753.4_Missense_Mutation_p.P299T	p.P299T	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	8	1440	+		Colorectal(252;0.178)	299					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.895C>A	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550650	0.86127	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.21191	2.02;2.02	5.33	5.33	0.75918	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.50548	0.1622	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.50516	-0.8819	10	0.54805	T	0.06	.	19.3762	0.94510	0.0:1.0:0.0:0.0	.	299;299	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	T	299	ENSP00000336824:P299T;ENSP00000358770:P299T	ENSP00000336824:P299T	P	+	1	0	SLK	105751222	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	6.377000	0.73145	2.646000	0.89796	0.462000	0.41574	CCC		0.388	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		7	32	1	0	0.00307968	0.278610	0.00354163	7	32				
RPS6KA5	9252	broad.mit.edu	37	14	91360831	91360831	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr14:91360831T>G	ENST00000261991.3	-	13	1743	c.1570A>C	c.(1570-1572)Atc>Ctc	p.I524L	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.I524L|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.I445L	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	524	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I524L(2)		endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TTCCTCATGATGTAGCTGGCT	0.448																																						ENST00000261991.3																			2	Substitution - Missense(2)	p.I524L(2)	prostate(2)	endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(1570-1572)Atc>Ctc		ribosomal protein S6 kinase, 90kDa, polypeptide 5							147.0	122.0	131.0					14																	91360831		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91360831T>G	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.1570A>C	14.37:g.91360831T>G	ENSP00000261991:p.Ile524Leu					RPS6KA5_ENST00000536315.2_Missense_Mutation_p.I445L|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.I524L	p.I524L	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	13	1743	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	524			Protein kinase 2.		O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.1570A>C	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.714874	0.48622	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.52983	0.64;0.64;0.64	5.66	5.66	0.87406	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57125	0.2032	L	0.39633	1.23	0.80722	D	1	B;D	0.59357	0.001;0.985	B;P	0.60345	0.086;0.873	T	0.56426	-0.7981	10	0.45353	T	0.12	.	15.9027	0.79392	0.0:0.0:0.0:1.0	.	524;524	O75582-2;O75582	.;KS6A5_HUMAN	L	524;445;524	ENSP00000261991:I524L;ENSP00000442803:I445L;ENSP00000402787:I524L	ENSP00000261991:I524L	I	-	1	0	RPS6KA5	90430584	1.000000	0.71417	1.000000	0.80357	0.371000	0.29859	8.040000	0.89188	2.146000	0.66826	0.533000	0.62120	ATC		0.448	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		25	54	0	0	0	0.667858	0	25	54				
BBS10	79738	broad.mit.edu	37	12	76740951	76740951	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr12:76740951C>T	ENST00000393262.3	-	2	897	c.814G>A	c.(814-816)Gga>Aga	p.G272R		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	272					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)	p.G272R(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						AACTCTGATCCAGAAGTGGAA	0.373									Bardet-Biedl syndrome																													ENST00000393262.3																			1	Substitution - Missense(1)	p.G272R(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						c.(814-816)Gga>Aga		Bardet-Biedl syndrome 10							60.0	53.0	56.0					12																	76740951		2203	4300	6503	SO:0001583	missense	79738	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	g.chr12:76740951C>T	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.814G>A	12.37:g.76740951C>T	ENSP00000376946:p.Gly272Arg						p.G272R	NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN			2	897	-			272					Q96CW2|Q9H5D2	Missense_Mutation	SNP	ENST00000393262.3	37	c.814G>A	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631643	0.29068	.	.	ENSG00000179941	ENST00000393262	T	0.68903	-0.36	5.13	4.22	0.49857	.	0.217724	0.38605	N	0.001637	T	0.65913	0.2737	M	0.67953	2.075	0.45554	D	0.998508	B	0.25390	0.125	B	0.28011	0.085	T	0.67515	-0.5651	10	0.59425	D	0.04	-5.011	13.5366	0.61650	0.0:0.9241:0.0:0.0759	.	272	Q8TAM1	BBS10_HUMAN	R	272	ENSP00000376946:G272R	ENSP00000376946:G272R	G	-	1	0	BBS10	75265082	0.054000	0.20591	0.741000	0.31004	0.526000	0.34562	0.833000	0.27504	1.497000	0.48584	0.650000	0.86243	GGA		0.373	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		12	26	0	0	0	0.387290	0	12	26				
KRTAP4-11	653240	broad.mit.edu	37	17	39274157	39274157	+	Silent	SNP	G	G	A	rs145503152		TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr17:39274157G>A	ENST00000391413.2	-	1	449	c.411C>T	c.(409-411)ccC>ccT	p.P137P		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	137	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.P137P(3)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			tgctgcagctggggtggcagc	0.672																																						ENST00000391413.2																			3	Substitution - coding silent(3)	p.P137P(3)	prostate(1)|lung(1)|endometrium(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(409-411)ccC>ccT		keratin associated protein 4-11							8.0	13.0	12.0					17																	39274157		684	1586	2270	SO:0001819	synonymous_variant	653240					keratin filament		g.chr17:39274157G>A	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.411C>T	17.37:g.39274157G>A							p.P137P	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	449	-		Breast(137;0.000496)	137			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Silent	SNP	ENST00000391413.2	37	c.411C>T	CCDS45675.1																																																																																				0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			7	38	0	0	0	0.307466	0	7	38				
CAPN13	92291	broad.mit.edu	37	2	30987143	30987143	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr2:30987143T>C	ENST00000295055.8	-	6	730	c.554A>G	c.(553-555)tAt>tGt	p.Y185C	CAPN13_ENST00000534090.2_Missense_Mutation_p.Y185C|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	185	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.Y185C(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GAGGAAGCCATAGTGCAGATC	0.577																																						ENST00000295055.8																			2	Substitution - Missense(2)	p.Y185C(2)	prostate(2)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.(553-555)tAt>tGt		calpain 13							52.0	54.0	53.0					2																	30987143		2104	4213	6317	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30987143T>C		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.554A>G	2.37:g.30987143T>C	ENSP00000295055:p.Tyr185Cys					CAPN13_ENST00000534090.2_Missense_Mutation_p.Y185C|CAPN13_ENST00000465960.2_5'UTR	p.Y185C	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN			6	730	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		185			Calpain catalytic.		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.554A>G	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.477937	0.26511	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.87256	-2.23;-2.23	5.22	-0.378	0.12497	Peptidase C2, calpain, catalytic domain (3);	1.246410	0.05317	N	0.525951	D	0.89750	0.6805	M	0.62723	1.935	0.09310	N	1	D	0.89917	1.0	D	0.70935	0.971	T	0.74808	-0.3539	10	0.42905	T	0.14	.	1.2442	0.01969	0.1383:0.23:0.143:0.4887	.	185	Q6MZZ7	CAN13_HUMAN	C	185	ENSP00000295055:Y185C;ENSP00000431298:Y185C	ENSP00000295055:Y185C	Y	-	2	0	CAPN13	30840647	0.000000	0.05858	0.397000	0.26308	0.202000	0.24057	-0.386000	0.07370	0.266000	0.21894	0.379000	0.24179	TAT		0.577	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		9	22	0	0	0	0.361761	0	9	22				
APLP2	334	broad.mit.edu	37	11	129979414	129979414	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr11:129979414C>A	ENST00000263574.5	+	2	268	c.196C>A	c.(196-198)Cag>Aag	p.Q66K	APLP2_ENST00000543137.1_5'UTR|APLP2_ENST00000338167.5_Missense_Mutation_p.Q66K|APLP2_ENST00000532456.1_3'UTR|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000278756.7_Missense_Mutation_p.Q76K|APLP2_ENST00000528499.1_Missense_Mutation_p.Q66K|APLP2_ENST00000345598.5_Missense_Mutation_p.Q66K	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	66					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.Q66K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGTGAACATTCAGACTGGGAA	0.458																																						ENST00000263574.5																			1	Substitution - Missense(1)	p.Q66K(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(196-198)Cag>Aag		amyloid beta (A4) precursor-like protein 2							112.0	101.0	105.0					11																	129979414		2201	4297	6498	SO:0001583	missense	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:129979414C>A	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.196C>A	11.37:g.129979414C>A	ENSP00000263574:p.Gln66Lys					APLP2_ENST00000345598.5_Missense_Mutation_p.Q66K|APLP2_ENST00000338167.5_Missense_Mutation_p.Q66K|APLP2_ENST00000278756.7_Missense_Mutation_p.Q76K|APLP2_ENST00000532456.1_3'UTR|APLP2_ENST00000528499.1_Missense_Mutation_p.Q66K|APLP2_ENST00000543137.1_5'UTR|APLP2_ENST00000539648.1_Intron	p.Q66K	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	2	268	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	66					B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.196C>A	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	C	35	5.530539	0.96446	.	.	ENSG00000084234	ENST00000530416;ENST00000533195;ENST00000533713;ENST00000528499;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756	D;D;D;D;D	0.94330	-3.4;-1.8;-3.38;-1.93;-1.94	6.17	6.17	0.99709	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, heparin-binding (3);	0.000000	0.85682	D	0.000000	D	0.97259	0.9104	M	0.86651	2.83	0.80722	D	1	D;P;D;P;P	0.60575	0.988;0.948;0.982;0.948;0.868	D;P;D;P;P	0.72625	0.978;0.886;0.968;0.886;0.762	D	0.97086	0.9787	10	0.72032	D	0.01	-30.4612	19.8676	0.96824	0.0:1.0:0.0:0.0	.	66;66;66;66;66	Q06481;Q06481-2;Q06481-5;Q06481-4;Q06481-3	APLP2_HUMAN;.;.;.;.	K	13;91;51;66;66;66;66;76	ENSP00000435914:Q66K;ENSP00000263574:Q66K;ENSP00000263575:Q66K;ENSP00000345444:Q66K;ENSP00000278756:Q76K	ENSP00000263574:Q66K	Q	+	1	0	APLP2	129484624	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CAG		0.458	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		3	46	1	0	0.115264	0.115264	0.126242	3	46				
FZD6	8323	broad.mit.edu	37	8	104340556	104340556	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr8:104340556A>G	ENST00000358755.4	+	5	1770	c.1453A>G	c.(1453-1455)Att>Gtt	p.I485V	FZD6_ENST00000540287.1_Missense_Mutation_p.I180V|FZD6_ENST00000523739.1_Missense_Mutation_p.I453V|FZD6_ENST00000522566.1_Missense_Mutation_p.I485V	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	485					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.I485V(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GATGACATTAATTGTTGGCAT	0.358																																						ENST00000358755.4																			1	Substitution - Missense(1)	p.I485V(1)	prostate(1)	central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1453-1455)Att>Gtt		frizzled family receptor 6							106.0	111.0	110.0					8																	104340556		2203	4300	6503	SO:0001583	missense	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104340556A>G	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1453A>G	8.37:g.104340556A>G	ENSP00000351605:p.Ile485Val					FZD6_ENST00000540287.1_Missense_Mutation_p.I180V|FZD6_ENST00000523739.1_Missense_Mutation_p.I453V|FZD6_ENST00000522566.1_Missense_Mutation_p.I485V	p.I485V	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		5	1770	+			485					B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	ENST00000358755.4	37	c.1453A>G	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.665214	0.29604	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43	5.31	5.31	0.75309	GPCR, family 2-like (1);	0.106321	0.64402	D	0.000004	T	0.61565	0.2357	N	0.04373	-0.215	0.42222	D	0.991855	B;B;B;B	0.27625	0.106;0.183;0.122;0.181	B;B;B;B	0.30782	0.08;0.12;0.064;0.08	T	0.61382	-0.7074	10	0.07482	T	0.82	.	15.5551	0.76187	1.0:0.0:0.0:0.0	.	430;180;485;485	B4E236;F5H831;B2R9H9;O60353	.;.;.;FZD6_HUMAN	V	485;485;453;180;430	ENSP00000429055:I485V;ENSP00000351605:I485V;ENSP00000429528:I453V;ENSP00000443757:I180V	ENSP00000351605:I485V	I	+	1	0	FZD6	104409732	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.846000	0.69444	2.125000	0.65367	0.383000	0.25322	ATT		0.358	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		14	47	0	0	0	0.479597	0	14	47				
KCNC4	3749	broad.mit.edu	37	1	110765671	110765671	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr1:110765671G>A	ENST00000369787.3	+	2	791	c.764G>A	c.(763-765)cGc>cAc	p.R255H	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Missense_Mutation_p.R255H|KCNC4_ENST00000413138.3_Missense_Mutation_p.R255H	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	255					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		AATATCGACCGCAACGTGACA	0.567																																						ENST00000369787.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32						c.(763-765)cGc>cAc		potassium voltage-gated channel, Shaw-related subfamily, member 4							184.0	155.0	165.0					1																	110765671		2203	4300	6503	SO:0001583	missense	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110765671G>A	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.764G>A	1.37:g.110765671G>A	ENSP00000358802:p.Arg255His					KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Missense_Mutation_p.R255H|KCNC4_ENST00000413138.3_Missense_Mutation_p.R255H	p.R255H	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	791	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	255					Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	c.764G>A	CCDS821.1	.	.	.	.	.	.	.	.	.	.	G	4.719	0.133637	0.09032	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.97328	-4.34;-4.34;-4.33	4.75	4.75	0.60458	.	0.540574	0.19555	N	0.111477	D	0.89206	0.6649	N	0.21194	0.64	0.34053	D	0.656361	B;B;B	0.21071	0.015;0.051;0.003	B;B;B	0.17722	0.008;0.019;0.005	D	0.85497	0.1189	10	0.39692	T	0.17	.	10.2994	0.43644	0.0:0.135:0.7076:0.1574	.	255;255;255	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	H	255	ENSP00000358802:R255H;ENSP00000388029:R255H;ENSP00000393655:R255H	ENSP00000358802:R255H	R	+	2	0	KCNC4	110567194	0.250000	0.23951	1.000000	0.80357	0.584000	0.36387	2.588000	0.46137	2.342000	0.79632	0.462000	0.41574	CGC		0.567	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		4	134	0	0	0	0.150653	0	4	134				
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G	rs113380635		TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RNU6-1268P_ENST00000391214.1_RNA|RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(922-924)gTt>gCt		POTE ankyrin domain family, member M							42.0	37.0	39.0					14																	20010235		365	763	1128	SO:0001583	missense	641455							g.chr14:20010235A>G		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.923T>C	14.37:g.20010235A>G	ENSP00000452296:p.Val308Ala					RP11-244H18.1_ENST00000547584.1_lincRNA	p.V308A	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			5	974	-			308						Missense_Mutation	SNP	ENST00000551509.1	37	c.923T>C	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	g	5.617	0.298596	0.10622	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.60040	0.22	0.906	0.906	0.19314	Ankyrin repeat-containing domain (4);	0.000000	0.32655	N	0.005811	T	0.10723	0.0262	N	0.00039	-2.51	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.25187	-1.0139	8	.	.	.	.	3.4158	0.07375	0.2955:0.0:0.7045:0.0	.	308	A6NI47	POTEM_HUMAN	A	308;393;308	ENSP00000452296:V308A	.	V	-	2	0	POTEM	19080235	0.621000	0.27077	0.813000	0.32504	0.042000	0.13812	0.922000	0.28734	-0.020000	0.14032	-1.160000	0.01791	GTT		0.368	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		3	55	0	0	0	0.115264	0	3	55				
GRM4	2914	broad.mit.edu	37	6	34004179	34004179	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr6:34004179G>A	ENST00000538487.2	-	9	2151	c.1708C>T	c.(1708-1710)Cgc>Tgc	p.R570C	GRM4_ENST00000609222.1_Missense_Mutation_p.R437C|GRM4_ENST00000535756.1_Missense_Mutation_p.R437C|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000544773.2_Missense_Mutation_p.R401C|GRM4_ENST00000455714.2_Missense_Mutation_p.R430C|GRM4_ENST00000374177.3_Missense_Mutation_p.R454C|GRM4_ENST00000374181.4_Missense_Mutation_p.R570C	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	570					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.R570C(2)|p.R454C(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CAGCCCGTGCGGTTCTCTGTG	0.652																																						ENST00000374181.3																			3	Substitution - Missense(3)	p.R570C(2)|p.R454C(1)	prostate(3)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1708-1710)Cgc>Tgc		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						53.0	47.0	49.0					6																	34004179		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34004179G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1708C>T	6.37:g.34004179G>A	ENSP00000440556:p.Arg570Cys					GRM4_ENST00000455714.2_Missense_Mutation_p.R430C|GRM4_ENST00000535756.1_Missense_Mutation_p.R437C|GRM4_ENST00000538487.1_Missense_Mutation_p.R570C|GRM4_ENST00000544773.1_Missense_Mutation_p.R401C|GRM4_ENST00000374177.3_Missense_Mutation_p.R454C|GRM4_ENST00000545715.1_Missense_Mutation_p.R262C	p.R570C	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			8	1877	-			570					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.1708C>T	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953696	0.73902	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.90197	-2.62;-2.63;-2.37;-2.42;-2.44;-2.62;-2.46	4.81	4.81	0.61882	.	0.108147	0.64402	D	0.000005	D	0.92964	0.7761	M	0.80422	2.495	0.52099	D	0.999941	P;P;D;D;P	0.65815	0.897;0.897;0.995;0.991;0.94	B;B;P;B;B	0.53861	0.203;0.191;0.736;0.446;0.134	D	0.93761	0.7067	10	0.72032	D	0.01	.	17.6697	0.88213	0.0:0.0:1.0:0.0	.	523;401;430;570;437	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	C	570;454;262;437;401;570;430	ENSP00000363296:R570C;ENSP00000363292:R454C;ENSP00000445533:R262C;ENSP00000437925:R437C;ENSP00000437730:R401C;ENSP00000440556:R570C;ENSP00000398456:R430C	ENSP00000363292:R454C	R	-	1	0	GRM4	34112157	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.653000	0.83643	2.494000	0.84150	0.448000	0.29417	CGC		0.652	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			15	38	0	0	0	0.520397	0	15	38				
AP3B2	8120	broad.mit.edu	37	15	83346500	83346500	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr15:83346500C>A	ENST00000261722.3	-	12	1508	c.1301G>T	c.(1300-1302)gGa>gTa	p.G434V	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.G434V|AP3B2_ENST00000535348.1_Missense_Mutation_p.G402V	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	434					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.G433V(1)|p.G434V(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TGCACAGCGTCCAATGGCCTG	0.537																																						ENST00000261722.3																			2	Substitution - Missense(2)	p.G433V(1)|p.G434V(1)	prostate(2)	breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41						c.(1300-1302)gGa>gTa		adaptor-related protein complex 3, beta 2 subunit							46.0	50.0	49.0					15																	83346500		2113	4232	6345	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83346500C>A	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.1301G>T	15.37:g.83346500C>A	ENSP00000261722:p.Gly434Val					AP3B2_ENST00000535359.1_Missense_Mutation_p.G434V|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.G402V	p.G434V	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		12	1508	-			434					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.1301G>T	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415553	0.83449	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.15952	2.38;2.38;2.38	4.98	4.07	0.47477	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53286	0.1787	H	0.95260	3.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.999	T	0.68595	-0.5367	10	0.87932	D	0	-11.4066	13.5112	0.61513	0.0:0.9249:0.0:0.0751	.	402;434;434	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	V	434;402;434	ENSP00000261722:G434V;ENSP00000438721:G402V;ENSP00000440984:G434V	ENSP00000261722:G434V	G	-	2	0	AP3B2	81143555	1.000000	0.71417	0.963000	0.40424	0.997000	0.91878	7.627000	0.83176	1.339000	0.45563	0.655000	0.94253	GGA		0.537	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			4	14	1	0	0.00024832	0.150653	0.000305079	4	14				
IGHV3-9	28451	broad.mit.edu	37	14	106552556	106552556	+	RNA	SNP	C	C	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr14:106552556C>A	ENST00000390600.2	-	0	162									immunoglobulin heavy variable 3-9																		TACCAAGCCTCCCCCAGACTC	0.557																																						ENST00000390600.2																			0																				92.0	68.0	76.0					14																	106552556		1846	3500	5346			0							g.chr14:106552556C>A	M99651		14q32.33	2012-02-08			ENSG00000211940			"""Immunoglobulins / IGH locus"""	5628	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152291		14.37:g.106552556C>A														0	162	-									RNA	SNP	ENST00000390600.2	37																																																																																						0.557	IGHV3-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325679.1	NG_001019		17	66	1	0	3.32936e-07	0.539581	4.33826e-07	17	66				
CAPN13	92291	broad.mit.edu	37	2	30987143	30987143	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr2:30987143T>C	ENST00000295055.8	-	6	730	c.554A>G	c.(553-555)tAt>tGt	p.Y185C	CAPN13_ENST00000534090.2_Missense_Mutation_p.Y185C|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	185	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.Y185C(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GAGGAAGCCATAGTGCAGATC	0.577																																						ENST00000295055.8																			2	Substitution - Missense(2)	p.Y185C(2)	prostate(2)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.(553-555)tAt>tGt		calpain 13							52.0	54.0	53.0					2																	30987143		2104	4213	6317	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30987143T>C		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.554A>G	2.37:g.30987143T>C	ENSP00000295055:p.Tyr185Cys					CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.Y185C	p.Y185C	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN			6	730	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		185			Calpain catalytic.		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.554A>G	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.477937	0.26511	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.87256	-2.23;-2.23	5.22	-0.378	0.12497	Peptidase C2, calpain, catalytic domain (3);	1.246410	0.05317	N	0.525951	D	0.89750	0.6805	M	0.62723	1.935	0.09310	N	1	D	0.89917	1.0	D	0.70935	0.971	T	0.74808	-0.3539	10	0.42905	T	0.14	.	1.2442	0.01969	0.1383:0.23:0.143:0.4887	.	185	Q6MZZ7	CAN13_HUMAN	C	185	ENSP00000295055:Y185C;ENSP00000431298:Y185C	ENSP00000295055:Y185C	Y	-	2	0	CAPN13	30840647	0.000000	0.05858	0.397000	0.26308	0.202000	0.24057	-0.386000	0.07370	0.266000	0.21894	0.379000	0.24179	TAT		0.577	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		9	22	0	0	0	0.361761	0	9	22				
SPTBN1	6711	broad.mit.edu	37	2	54753666	54753666	+	Silent	SNP	G	G	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr2:54753666G>A	ENST00000356805.4	+	2	392	c.111G>A	c.(109-111)gcG>gcA	p.A37A	AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	37	Actin-binding.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.A37A(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACAGCTCTGCGCGGCTTTTTG	0.532																																						ENST00000356805.4																			1	Substitution - coding silent(1)	p.A37A(1)	prostate(1)	NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(109-111)gcG>gcA		spectrin, beta, non-erythrocytic 1							123.0	112.0	116.0					2																	54753666		2203	4300	6503	SO:0001819	synonymous_variant	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54753666G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.111G>A	2.37:g.54753666G>A						AC092839.3_ENST00000433475.1_RNA	p.A37A	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		2	392	+			37			Actin-binding.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.111G>A	CCDS33198.1																																																																																				0.532	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			16	54	0	0	0	0.520397	0	16	54				
MORF4L1	10933	broad.mit.edu	37	15	79177371	79177371	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr15:79177371T>C	ENST00000331268.5	+	4	422	c.218T>C	c.(217-219)cTt>cCt	p.L73P	MORF4L1_ENST00000558746.1_Intron|MORF4L1_ENST00000559345.1_Intron|MORF4L1_ENST00000379535.4_Intron|MORF4L1_ENST00000426013.2_Intron|MORF4L1_ENST00000558502.1_Intron|MORF4L1_ENST00000561171.1_Intron	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	73					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)	p.L73P(1)		breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						ATTGTAGCCCTTTTTCCTGTT	0.443																																						ENST00000331268.5																			1	Substitution - Missense(1)	p.L73P(1)	prostate(1)	breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						c.(217-219)cTt>cCt		mortality factor 4 like 1							129.0	116.0	120.0					15																	79177371		2196	4293	6489	SO:0001583	missense	10933				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	g.chr15:79177371T>C	AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"""MORF-related gene on chromosome 15"", ""Esa1p-associated factor 3 homolog (S. cerevisiae)"""	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.218T>C	15.37:g.79177371T>C	ENSP00000331310:p.Leu73Pro					MORF4L1_ENST00000559345.1_Intron|MORF4L1_ENST00000558746.1_Intron|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000558502.1_Intron|MORF4L1_ENST00000379535.4_Intron|MORF4L1_ENST00000426013.2_Intron	p.L73P	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN			4	422	+			73					B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	ENST00000331268.5	37	c.218T>C	CCDS10307.1	.	.	.	.	.	.	.	.	.	.	T	11.43	1.635762	0.29068	.	.	ENSG00000185787	ENST00000331268	T	0.31247	1.5	6.03	-0.384	0.12474	Chromo domain-like (1);	0.394014	0.19707	N	0.107905	T	0.11922	0.0290	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11916	-1.0568	10	0.30078	T	0.28	1.9655	4.4834	0.11778	0.1393:0.313:0.0:0.5477	.	73	Q9UBU8	MO4L1_HUMAN	P	73	ENSP00000331310:L73P	ENSP00000331310:L73P	L	+	2	0	MORF4L1	76964426	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	1.299000	0.33424	-0.310000	0.08766	0.533000	0.62120	CTT		0.443	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000290131.4	NM_006791		3	93	0	0	0	0.150653	0	3	93				
IQGAP1	8826	broad.mit.edu	37	15	91027480	91027480	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr15:91027480C>G	ENST00000268182.5	+	30	3941	c.3817C>G	c.(3817-3819)Cca>Gca	p.P1273A	IQGAP1_ENST00000560738.1_Missense_Mutation_p.P701A	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1273	C1.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.P1273A(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTGTGATGTCCCAGAGCTTCA	0.423																																						ENST00000268182.5																			1	Substitution - Missense(1)	p.P1273A(1)	prostate(1)	breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(3817-3819)Cca>Gca		IQ motif containing GTPase activating protein 1							141.0	135.0	137.0					15																	91027480		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91027480C>G	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3817C>G	15.37:g.91027480C>G	ENSP00000268182:p.Pro1273Ala					IQGAP1_ENST00000560738.1_Missense_Mutation_p.P701A	p.P1273A	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		30	3941	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1273			C1.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.3817C>G	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654187	0.67472	.	.	ENSG00000140575	ENST00000268182	D	0.83419	-1.72	5.55	5.55	0.83447	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.118031	0.64402	D	0.000018	T	0.80199	0.4579	L	0.60957	1.885	0.80722	D	1	B	0.33883	0.43	B	0.26310	0.068	T	0.78593	-0.2144	10	0.38643	T	0.18	-12.8494	18.858	0.92260	0.0:1.0:0.0:0.0	.	1273	P46940	IQGA1_HUMAN	A	1273	ENSP00000268182:P1273A	ENSP00000268182:P1273A	P	+	1	0	IQGAP1	88828484	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.626000	0.83164	2.770000	0.95276	0.650000	0.86243	CCA		0.423	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		33	121	0	0	0	0.788014	0	33	121				
HLA-V	352962	broad.mit.edu	37	6	29761676	29761676	+	RNA	SNP	C	C	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr6:29761676C>G	ENST00000457107.1	+	0	902									major histocompatibility complex, class I, V (pseudogene)																		gagagggtttcatattcaaga	0.493																																						ENST00000457107.1																			0																																																			0							g.chr6:29761676C>G	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29761676C>G														0	902	+									RNA	SNP	ENST00000457107.1	37																																																																																						0.493	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		2	7	0	0	0	0.115264	0	2	7				
BEND6	221336	broad.mit.edu	37	6	56882125	56882125	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr6:56882125G>A	ENST00000370746.3	+	5	909	c.640G>A	c.(640-642)Gca>Aca	p.A214T	BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000545789.1_Missense_Mutation_p.A116T|BEND6_ENST00000370750.2_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	214	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)	p.A214T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						CCTGACAGGGGCAAAATCCTC	0.388																																						ENST00000370746.3																			1	Substitution - Missense(1)	p.A214T(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						c.(640-642)Gca>Aca		BEN domain containing 6							81.0	75.0	77.0					6																	56882125		1912	4129	6041	SO:0001583	missense	221336							g.chr6:56882125G>A	AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.640G>A	6.37:g.56882125G>A	ENSP00000359782:p.Ala214Thr					BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000545789.1_Missense_Mutation_p.A116T	p.A214T	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN			5	909	+			214			BEN.		Q4G0W8|Q8N662|Q96NS6	Missense_Mutation	SNP	ENST00000370746.3	37	c.640G>A	CCDS43476.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	5.997249|5.997249	0.97184|0.97184	.|.	.|.	ENSG00000151917|ENSG00000151917	ENST00000322055|ENST00000370746;ENST00000545789	.|T;T	.|0.42900	.|0.96;0.96	4.78|4.78	4.78|4.78	0.61160|0.61160	.|BEN domain (2);	.|0.116326	.|0.38272	.|N	.|0.001746	.|T	.|0.31702	.|0.0805	N|N	0.08118|0.08118	0|0	0.40653|0.40653	D|D	0.982055|0.982055	.|D;D	.|0.69078	.|0.997;0.996	.|D;D	.|0.83275	.|0.996;0.99	.|T	.|0.27123	.|-1.0083	.|9	.|.	.|.	.|.	.|-21.5422	15.1125|15.1125	0.72368|0.72368	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|214;116	.|Q5SZJ8;Q5SZJ8-3	.|BEND6_HUMAN;.	.|T	-1|214;116	.|ENSP00000359782:A214T;ENSP00000439320:A116T	.|.	.|A	+|+	.|1	.|0	BEND6|BEND6	56990084|56990084	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.986000|0.986000	0.74619|0.74619	4.384000|4.384000	0.59607|0.59607	2.490000|2.490000	0.84030|0.84030	0.491000|0.491000	0.48974|0.48974	.|GCA		0.388	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731		3	30	0	0	0	0.115264	0	3	30				
TLE4	7091	broad.mit.edu	37	9	82320809	82320809	+	Silent	SNP	C	C	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr9:82320809C>T	ENST00000376552.2	+	10	1753	c.735C>T	c.(733-735)agC>agT	p.S245S	TLE4_ENST00000265284.6_Silent_p.S220S|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376537.4_Silent_p.S245S|TLE4_ENST00000376520.4_Silent_p.S245S|TLE4_ENST00000376534.4_5'UTR	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	245	CCN domain.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)	p.S245S(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGCAGGACAGCGATGGTGAGA	0.398																																						ENST00000376520.4																			2	Substitution - coding silent(2)	p.S245S(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(733-735)agC>agT		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							308.0	304.0	305.0					9																	82320809		1972	4175	6147	SO:0001819	synonymous_variant	7091							g.chr9:82320809C>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.735C>T	9.37:g.82320809C>T						TLE4_ENST00000376552.2_Silent_p.S245S|TLE4_ENST00000265284.6_Silent_p.S220S|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Silent_p.S245S|TLE4_ENST00000376544.3_Intron	p.S245S			O60756	BCE1_HUMAN			10	1563	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	ENST00000376552.2	37	c.735C>T	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	C	7.218	0.596880	0.13875	.	.	ENSG00000106829	ENST00000496114	.	.	.	5.97	-7.78	0.01223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.3241	20.8932	0.99940	0.0:0.2288:0.0:0.7712	.	.	.	.	X	36	.	.	R	+	1	2	TLE4	81510629	0.008000	0.16893	0.269000	0.24586	0.806000	0.45545	-1.295000	0.02764	-1.787000	0.01268	-0.964000	0.02622	CGA		0.398	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		6	129	0	0	0	0.248553	0	6	129				
NGLY1	55768	broad.mit.edu	37	3	25778887	25778887	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr3:25778887T>C	ENST00000280700.5	-	6	1101	c.941A>G	c.(940-942)aAt>aGt	p.N314S	NGLY1_ENST00000422724.2_Missense_Mutation_p.I163V|NGLY1_ENST00000428257.1_Missense_Mutation_p.N314S|NGLY1_ENST00000396649.3_Missense_Mutation_p.N314S|NGLY1_ENST00000417874.2_Missense_Mutation_p.N272S	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	314					glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)	p.N314S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TGTAAAACAATTGGCCCACTC	0.413																																						ENST00000428257.1																			1	Substitution - Missense(1)	p.N314S(1)	prostate(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						c.(940-942)aAt>aGt		N-glycanase 1							97.0	92.0	93.0					3																	25778887		2203	4300	6503	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25778887T>C	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.941A>G	3.37:g.25778887T>C	ENSP00000280700:p.Asn314Ser					NGLY1_ENST00000396649.3_Missense_Mutation_p.N314S|NGLY1_ENST00000280700.5_Missense_Mutation_p.N314S|NGLY1_ENST00000422724.2_Missense_Mutation_p.I163V|NGLY1_ENST00000417874.2_Missense_Mutation_p.N272S	p.N314S	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN			6	1048	-			314					B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.941A>G	CCDS33719.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.46|18.46	3.629912|3.629912	0.67015|0.67015	.|.	.|.	ENSG00000151092|ENSG00000151092	ENST00000422724|ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000417874	.|T;T;T;T;T	.|0.19938	.|2.11;2.11;2.11;2.11;2.11	5.21|5.21	5.21|5.21	0.72293|0.72293	.|Transglutaminase-like (2);	.|0.039044	.|0.85682	.|D	.|0.000000	T|T	0.48205|0.48205	0.1487|0.1487	M|M	0.79258|0.79258	2.445|2.445	0.29190|0.29190	N|N	0.875941|0.875941	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.997;0.997;0.992;1.0	T|T	0.50625|0.50625	-0.8806|-0.8806	6|9	0.21014|.	T|.	0.42|.	-20.7453|-20.7453	15.3861|15.3861	0.74703|0.74703	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|272;314;314;314	.|B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.|.;.;.;NGLY1_HUMAN	V|S	163|314;314;314;311;272	.|ENSP00000387430:N314S;ENSP00000280700:N314S;ENSP00000379886:N314S;ENSP00000307980:N311S;ENSP00000389888:N272S	ENSP00000395878:I163V|.	I|N	-|-	1|2	0|0	NGLY1|NGLY1	25753891|25753891	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.769000|7.769000	0.85360|0.85360	2.073000|2.073000	0.62155|0.62155	0.533000|0.533000	0.62120|0.62120	ATT|AAT		0.413	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2			8	61	0	0	0	0.307466	0	8	61				
TPO	7173	broad.mit.edu	37	2	1499889	1499889	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr2:1499889G>A	ENST00000345913.4	+	12	2226	c.2135G>A	c.(2134-2136)gGc>gAc	p.G712D	TPO_ENST00000346956.3_Missense_Mutation_p.G712D|TPO_ENST00000329066.4_Missense_Mutation_p.G712D|TPO_ENST00000382201.3_Missense_Mutation_p.G655D|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.G539D|TPO_ENST00000337415.3_Missense_Mutation_p.G712D|TPO_ENST00000349624.3_Missense_Mutation_p.G539D	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	712					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)	p.G712D(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTCCAAGTCGGCAAATTCCCC	0.562																																						ENST00000345913.4																			1	Substitution - Missense(1)	p.G712D(1)	prostate(1)	breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2134-2136)gGc>gAc		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						65.0	63.0	64.0					2																	1499889		2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1499889G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2135G>A	2.37:g.1499889G>A	ENSP00000318820:p.Gly712Asp					TPO_ENST00000382198.1_Missense_Mutation_p.G539D|TPO_ENST00000382201.3_Missense_Mutation_p.G655D|TPO_ENST00000349624.3_Missense_Mutation_p.G539D|TPO_ENST00000346956.3_Missense_Mutation_p.G712D|TPO_ENST00000337415.3_Missense_Mutation_p.G712D|TPO_ENST00000329066.4_Missense_Mutation_p.G712D|TPO_ENST00000497517.2_Intron	p.G712D	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	12	2226	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	712					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.2135G>A	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.67|12.67	2.006722|2.006722	0.35415|0.35415	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000446278|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	.|T;T;T;T;T;T;T;T;T	.|0.72725	.|-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68;-0.68	4.59|4.59	2.69|2.69	0.31865|0.31865	.|.	.|0.342412	.|0.35772	.|N	.|0.002998	T|T	0.80732|0.80732	0.4679|0.4679	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.985;0.999;0.974;0.975	.|P;D;P;P	.|0.71414	.|0.897;0.973;0.795;0.793	T|T	0.78580|0.78580	-0.2149|-0.2149	5|10	.|0.42905	.|T	.|0.14	-12.3263|-12.3263	11.0847|11.0847	0.48080|0.48080	0.0:0.1398:0.7149:0.1453|0.0:0.1398:0.7149:0.1453	.|.	.|712;539;655;712	.|P07202-4;P07202-5;P07202-2;P07202	.|.;.;.;PERT_HUMAN	T|D	187|712;712;712;539;712;655;539;641;186	.|ENSP00000337263:G712D;ENSP00000318820:G712D;ENSP00000263886:G712D;ENSP00000332044:G539D;ENSP00000329869:G712D;ENSP00000371636:G655D;ENSP00000371633:G539D;ENSP00000405788:G641D;ENSP00000419461:G186D	.|ENSP00000329869:G712D	A|G	+|+	1|2	0|0	TPO|TPO	1478896|1478896	0.946000|0.946000	0.32159|0.32159	0.001000|0.001000	0.08648|0.08648	0.002000|0.002000	0.02628|0.02628	2.236000|2.236000	0.43052|0.43052	0.430000|0.430000	0.26230|0.26230	0.561000|0.561000	0.74099|0.74099	GCA|GGC		0.562	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		3	49	0	0	0	0.115264	0	3	49				
C20orf194	25943	broad.mit.edu	37	20	3236652	3236652	+	Splice_Site	SNP	C	C	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr20:3236652C>G	ENST00000252032.9	-	34	3328	c.3261G>C	c.(3259-3261)caG>caC	p.Q1087H	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	1087								p.Q1087H(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TGGAAACCACCTGCTTAGCTG	0.597																																						ENST00000252032.9																			1	Substitution - Missense(1)	p.Q1087H(1)	prostate(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						c.e34+1		chromosome 20 open reading frame 194							44.0	46.0	45.0					20																	3236652		2080	4213	6293	SO:0001630	splice_region_variant	25943							g.chr20:3236652C>G	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.3261+1G>C	20.37:g.3236652C>G						C20orf194_ENST00000453730.2_3'UTR	p.Q1087_splice	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN			34	3328	-			1087					Q66K86|Q6P2R9|Q9UFX9	Splice_Site	SNP	ENST00000252032.9	37	c.3261_splice	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556738	0.86231	.	.	ENSG00000088854	ENST00000252032	T	0.23348	1.91	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.51924	0.1703	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.994	T	0.42582	-0.9443	9	.	.	.	.	19.6747	0.95926	0.0:1.0:0.0:0.0	.	826;1087	Q0IIP3;Q5TEA3	.;CT194_HUMAN	H	1087	ENSP00000252032:Q1087H	.	Q	-	3	2	C20orf194	3184652	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.171000	0.71926	2.654000	0.90174	0.643000	0.83706	CAG		0.597	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984	Missense_Mutation	8	27	0	0	0	0.278610	0	8	27				
SLC34A2	10568	broad.mit.edu	37	4	25678365	25678365	+	Silent	SNP	C	C	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr4:25678365C>T	ENST00000382051.3	+	13	2117	c.2067C>T	c.(2065-2067)gcC>gcT	p.A689A	SLC34A2_ENST00000504570.1_Silent_p.A688A|SLC34A2_ENST00000503434.1_Silent_p.A688A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	689					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.A689A(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				AATGCACGGCCTTGTAGGGGA	0.562			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	1	Substitution - coding silent(1)	p.A689A(1)	prostate(1)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(2065-2067)gcC>gcT		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							49.0	50.0	49.0					4																	25678365		2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25678365C>T	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.2067C>T	4.37:g.25678365C>T						SLC34A2_ENST00000504570.1_Silent_p.A688A|SLC34A2_ENST00000503434.1_Silent_p.A688A	p.A689A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			13	2117	+		Breast(46;0.0503)	689					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.2067C>T	CCDS3435.1																																																																																				0.562	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		12	56	0	0	0	0.411799	0	12	56				
TMEM184C	55751	broad.mit.edu	37	4	148545026	148545026	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr4:148545026T>G	ENST00000296582.3	+	2	739	c.165T>G	c.(163-165)ttT>ttG	p.F55L	TMEM184C_ENST00000508208.1_Missense_Mutation_p.F55L	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	55						integral component of membrane (GO:0016021)		p.F55L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						CTGGAATCTTTTTGCTGTTGA	0.323																																						ENST00000296582.3																			1	Substitution - Missense(1)	p.F55L(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						c.(163-165)ttT>ttG		transmembrane protein 184C							134.0	132.0	133.0					4																	148545026		2202	4300	6502	SO:0001583	missense	55751					integral to membrane		g.chr4:148545026T>G	AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"""transmembrane protein 34"""	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.165T>G	4.37:g.148545026T>G	ENSP00000296582:p.Phe55Leu					TMEM184C_ENST00000508208.1_Missense_Mutation_p.F55L	p.F55L	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN			2	739	+			55					D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	ENST00000296582.3	37	c.165T>G	CCDS3770.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.469537	0.84533	.	.	ENSG00000164168	ENST00000296582;ENST00000508208	T;T	0.47528	0.84;0.84	5.42	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.65760	0.2722	M	0.77616	2.38	0.58432	D	0.999999	D	0.71674	0.998	D	0.69654	0.965	T	0.66748	-0.5845	10	0.48119	T	0.1	-23.7472	11.2847	0.49216	0.0:0.0718:0.0:0.9282	.	55	Q9NVA4	T184C_HUMAN	L	55	ENSP00000296582:F55L;ENSP00000425940:F55L	ENSP00000296582:F55L	F	+	3	2	TMEM184C	148764476	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.847000	0.48270	1.004000	0.39156	0.455000	0.32223	TTT		0.323	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241		23	66	0	0	0	0.654019	0	23	66				
PTPRT	11122	broad.mit.edu	37	20	40735499	40735499	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr20:40735499T>G	ENST00000373187.1	-	24	3316	c.3317A>C	c.(3316-3318)aAt>aCt	p.N1106T	PTPRT_ENST00000373190.1_Missense_Mutation_p.N1105T|PTPRT_ENST00000373198.4_Missense_Mutation_p.N1125T|PTPRT_ENST00000373193.3_Missense_Mutation_p.N1109T|PTPRT_ENST00000356100.2_Missense_Mutation_p.N1115T|PTPRT_ENST00000373201.1_Missense_Mutation_p.N1096T|PTPRT_ENST00000373184.1_Missense_Mutation_p.N1116T			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1106	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.		N -> I (in a colorectal cancer; reduced phosphatase activity). {ECO:0000269|PubMed:15155950}.		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.N1128T(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CACCCCTTCATTCTCGGCCAT	0.562																																						ENST00000373198.3																			1	Substitution - Missense(1)	p.N1128T(1)	prostate(1)	NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(3382-3384)aAt>aCt		protein tyrosine phosphatase, receptor type, T							85.0	95.0	91.0					20																	40735499		2109	4247	6356	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40735499T>G	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3317A>C	20.37:g.40735499T>G	ENSP00000362283:p.Asn1106Thr					PTPRT_ENST00000373190.1_Missense_Mutation_p.N1105T|PTPRT_ENST00000373193.3_Missense_Mutation_p.N1109T|PTPRT_ENST00000373201.1_Missense_Mutation_p.N1096T|PTPRT_ENST00000356100.2_Missense_Mutation_p.N1115T|PTPRT_ENST00000373187.1_Missense_Mutation_p.N1106T|PTPRT_ENST00000373184.1_Missense_Mutation_p.N1116T	p.N1128T	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			25	3618	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1106			Tyrosine-protein phosphatase 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.3383A>C	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.997165	0.35226	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.41	5.41	0.78517	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.046866	0.85682	D	0.000000	T	0.20088	0.0483	N	0.12746	0.255	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.03524	-1.1028	10	0.36615	T	0.2	.	15.7427	0.77914	0.0:0.0:0.0:1.0	.	1128;1106	O14522-1;O14522	.;PTPRT_HUMAN	T	1105;1106;1109;1115;1128;1116;1096	ENSP00000362286:N1105T;ENSP00000362283:N1106T;ENSP00000362289:N1109T;ENSP00000348408:N1115T;ENSP00000362294:N1128T;ENSP00000362280:N1116T;ENSP00000362297:N1096T	ENSP00000348408:N1115T	N	-	2	0	PTPRT	40168913	0.923000	0.31300	0.998000	0.56505	0.954000	0.61252	1.712000	0.37940	2.178000	0.69098	0.482000	0.46254	AAT		0.562	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			4	103	0	0	0	0.184627	0	4	103				
XPO4	64328	broad.mit.edu	37	13	21436893	21436893	+	Silent	SNP	G	G	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr13:21436893G>T	ENST00000255305.6	-	3	351	c.280C>A	c.(280-282)Cga>Aga	p.R94R	XPO4_ENST00000490513.1_5'UTR|XPO4_ENST00000400602.2_Silent_p.R94R			Q9C0E2	XPO4_HUMAN	exportin 4	94					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R67R(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AGGAATGTTCGCAGAGACTCG	0.433																																						ENST00000400602.2																			1	Substitution - coding silent(1)	p.R67R(1)	prostate(1)	breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(280-282)Cga>Aga		exportin 4							185.0	178.0	180.0					13																	21436893		1856	4097	5953	SO:0001819	synonymous_variant	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21436893G>T	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.280C>A	13.37:g.21436893G>T						XPO4_ENST00000255305.6_Silent_p.R94R|XPO4_ENST00000490513.1_5'UTR	p.R94R	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	3	315	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	94					Q5VUZ5|Q8N3V6|Q9H934	Silent	SNP	ENST00000255305.6	37	c.280C>A	CCDS41872.1																																																																																				0.433	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		9	257	1	0	2.17888e-05	0.335167	2.75564e-05	9	257				
DDX60L	91351	broad.mit.edu	37	4	169300651	169300651	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr4:169300651T>C	ENST00000511577.1	-	32	4473	c.4226A>G	c.(4225-4227)tAt>tGt	p.Y1409C	DDX60L_ENST00000260184.7_Missense_Mutation_p.Y1409C			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1409							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.Y1409C(1)|p.Y1410C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTTATTTAAATAGTCCTAAAA	0.303																																						ENST00000511577.1																			2	Substitution - Missense(2)	p.Y1409C(1)|p.Y1410C(1)	prostate(2)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(4225-4227)tAt>tGt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							27.0	28.0	28.0					4																	169300651		1808	4071	5879	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169300651T>C	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.4226A>G	4.37:g.169300651T>C	ENSP00000422423:p.Tyr1409Cys					DDX60L_ENST00000260184.7_Missense_Mutation_p.Y1409C	p.Y1409C			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	32	4473	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1409					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.4226A>G		.	.	.	.	.	.	.	.	.	.	T	13.35	2.210380	0.39003	.	.	ENSG00000181381	ENST00000260184;ENST00000511577	T;T	0.19669	2.13;2.13	3.51	2.26	0.28386	.	.	.	.	.	T	0.41673	0.1169	M	0.75447	2.3	0.18873	N	0.999983	D	0.89917	1.0	D	0.69142	0.962	T	0.14117	-1.0484	9	0.54805	T	0.06	.	8.7263	0.34471	0.1704:0.0:0.0:0.8296	.	1409	Q5H9U9	DDX6L_HUMAN	C	1409	ENSP00000260184:Y1409C;ENSP00000422423:Y1409C	ENSP00000260184:Y1409C	Y	-	2	0	DDX60L	169537226	1.000000	0.71417	0.005000	0.12908	0.202000	0.24057	2.202000	0.42743	0.321000	0.23259	0.254000	0.18369	TAT		0.303	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		11	15	0	0	0	0.387290	0	11	15				
SLK	9748	broad.mit.edu	37	10	105761232	105761232	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr10:105761232C>A	ENST00000369755.3	+	8	1440	c.895C>A	c.(895-897)Ccc>Acc	p.P299T	SLK_ENST00000335753.4_Missense_Mutation_p.P299T	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	299					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.P299T(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTCCAACAAACCCATCCGAGA	0.388																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			1	Substitution - Missense(1)	p.P299T(1)	prostate(1)	kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(895-897)Ccc>Acc		STE20-like kinase							100.0	87.0	91.0					10																	105761232		2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105761232C>A		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.895C>A	10.37:g.105761232C>A	ENSP00000358770:p.Pro299Thr					SLK_ENST00000335753.4_Missense_Mutation_p.P299T	p.P299T	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	8	1440	+		Colorectal(252;0.178)	299					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.895C>A	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550650	0.86127	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.21191	2.02;2.02	5.33	5.33	0.75918	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.50548	0.1622	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.50516	-0.8819	10	0.54805	T	0.06	.	19.3762	0.94510	0.0:1.0:0.0:0.0	.	299;299	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	T	299	ENSP00000336824:P299T;ENSP00000358770:P299T	ENSP00000336824:P299T	P	+	1	0	SLK	105751222	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	6.377000	0.73145	2.646000	0.89796	0.462000	0.41574	CCC		0.388	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		7	32	1	0	0.00307968	0.278610	0.00367851	7	32				
RPS6KA5	9252	broad.mit.edu	37	14	91360831	91360831	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr14:91360831T>G	ENST00000261991.3	-	13	1743	c.1570A>C	c.(1570-1572)Atc>Ctc	p.I524L	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.I524L|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.I445L	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	524	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I524L(2)		endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TTCCTCATGATGTAGCTGGCT	0.448																																						ENST00000261991.3																			2	Substitution - Missense(2)	p.I524L(2)	prostate(2)	endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(1570-1572)Atc>Ctc		ribosomal protein S6 kinase, 90kDa, polypeptide 5							147.0	122.0	131.0					14																	91360831		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91360831T>G	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.1570A>C	14.37:g.91360831T>G	ENSP00000261991:p.Ile524Leu					RPS6KA5_ENST00000418736.2_Missense_Mutation_p.I524L|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.I445L	p.I524L	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	13	1743	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	524			Protein kinase 2.		O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.1570A>C	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.714874	0.48622	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.52983	0.64;0.64;0.64	5.66	5.66	0.87406	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57125	0.2032	L	0.39633	1.23	0.80722	D	1	B;D	0.59357	0.001;0.985	B;P	0.60345	0.086;0.873	T	0.56426	-0.7981	10	0.45353	T	0.12	.	15.9027	0.79392	0.0:0.0:0.0:1.0	.	524;524	O75582-2;O75582	.;KS6A5_HUMAN	L	524;445;524	ENSP00000261991:I524L;ENSP00000442803:I445L;ENSP00000402787:I524L	ENSP00000261991:I524L	I	-	1	0	RPS6KA5	90430584	1.000000	0.71417	1.000000	0.80357	0.371000	0.29859	8.040000	0.89188	2.146000	0.66826	0.533000	0.62120	ATC		0.448	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		25	54	0	0	0	0.667858	0	25	54				
CHAF1A	10036	broad.mit.edu	37	19	4442949	4442949	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr19:4442949C>T	ENST00000301280.5	+	15	2899	c.2798C>T	c.(2797-2799)tCc>tTc	p.S933F		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	933	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)	p.S933F(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCCGCTTCCGGAGCTGGG	0.672								Chromatin Structure																														ENST00000301280.5																			1	Substitution - Missense(1)	p.S933F(1)	prostate(1)	breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(2797-2799)tCc>tTc	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)							22.0	24.0	23.0					19																	4442949		2201	4298	6499	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4442949C>T	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2798C>T	19.37:g.4442949C>T	ENSP00000301280:p.Ser933Phe						p.S933F	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	15	2899	+		Hepatocellular(1079;0.137)	933			Binds to p60.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.2798C>T	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753857	0.49362	.	.	ENSG00000167670	ENST00000301280	T	0.28666	1.6	3.68	3.68	0.42216	.	.	.	.	.	T	0.30355	0.0762	L	0.57536	1.79	0.09310	N	1	P	0.44578	0.838	B	0.38562	0.276	T	0.22521	-1.0214	9	0.87932	D	0	-1.2356	11.2517	0.49031	0.0:1.0:0.0:0.0	.	933	Q13111	CAF1A_HUMAN	F	933	ENSP00000301280:S933F	ENSP00000301280:S933F	S	+	2	0	CHAF1A	4393949	0.012000	0.17670	0.002000	0.10522	0.021000	0.10359	3.308000	0.51896	1.769000	0.52152	0.313000	0.20887	TCC		0.672	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		5	18	0	0	0	0.278610	0	5	18				
BBS10	79738	broad.mit.edu	37	12	76740951	76740951	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr12:76740951C>T	ENST00000393262.3	-	2	897	c.814G>A	c.(814-816)Gga>Aga	p.G272R		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	272					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)	p.G272R(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						AACTCTGATCCAGAAGTGGAA	0.373									Bardet-Biedl syndrome																													ENST00000393262.3																			1	Substitution - Missense(1)	p.G272R(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						c.(814-816)Gga>Aga		Bardet-Biedl syndrome 10							60.0	53.0	56.0					12																	76740951		2203	4300	6503	SO:0001583	missense	79738	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	g.chr12:76740951C>T	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.814G>A	12.37:g.76740951C>T	ENSP00000376946:p.Gly272Arg						p.G272R	NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN			2	897	-			272					Q96CW2|Q9H5D2	Missense_Mutation	SNP	ENST00000393262.3	37	c.814G>A	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631643	0.29068	.	.	ENSG00000179941	ENST00000393262	T	0.68903	-0.36	5.13	4.22	0.49857	.	0.217724	0.38605	N	0.001637	T	0.65913	0.2737	M	0.67953	2.075	0.45554	D	0.998508	B	0.25390	0.125	B	0.28011	0.085	T	0.67515	-0.5651	10	0.59425	D	0.04	-5.011	13.5366	0.61650	0.0:0.9241:0.0:0.0759	.	272	Q8TAM1	BBS10_HUMAN	R	272	ENSP00000376946:G272R	ENSP00000376946:G272R	G	-	1	0	BBS10	75265082	0.054000	0.20591	0.741000	0.31004	0.526000	0.34562	0.833000	0.27504	1.497000	0.48584	0.650000	0.86243	GGA		0.373	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		12	26	0	0	0	0.387290	0	12	26				
IFITM3	10410	broad.mit.edu	37	11	320606	320606	+	Missense_Mutation	SNP	G	G	T	rs199749095	byFrequency	TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr11:320606G>T	ENST00000399808.4	-	1	444	c.208C>A	c.(208-210)Ccc>Acc	p.P70T	RP11-326C3.10_ENST00000534271.1_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000508004.2_RNA|RP11-326C3.11_ENST00000602429.1_RNA|RP11-326C3.14_ENST00000602809.1_lincRNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	70	Interaction with SPP1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.P70T(3)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGCAGCAGGGGTTCATGAAG	0.632																																						ENST00000399808.4																			3	Substitution - Missense(3)	p.P70T(3)	endometrium(2)|central_nervous_system(1)	central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18						c.(208-210)Ccc>Acc		interferon induced transmembrane protein 3							89.0	95.0	93.0					11																	320606		2101	4210	6311	SO:0001583	missense	10410				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		g.chr11:320606G>T	X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"""interferon induced transmembrane protein 3 (1-8U)"""			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.208C>A	11.37:g.320606G>T	ENSP00000382707:p.Pro70Thr					RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T	p.P70T	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	1	444	-		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	70			Interaction with SPP1.		Q53Y76|Q96HK8|Q96J15	Missense_Mutation	SNP	ENST00000399808.4	37	c.208C>A	CCDS41585.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|G	0.076|0.076	-1.193620|-1.193620	0.01594|0.01594	.|.	.|.	ENSG00000142089|ENSG00000142089	ENST00000270031|ENST00000399808;ENST00000526811	.|T;T	.|0.78595	.|-0.94;-1.19	4.65|4.65	-9.3|-9.3	0.00649|0.00649	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54447	.|0.1859	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999999|0.999999	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	.|T	.|0.32375	.|-0.9909	.|9	.|0.22109	.|T	.|0.4	.|.	2.5632|2.5632	0.04777|0.04777	0.1587:0.0951:0.2785:0.4676|0.1587:0.0951:0.2785:0.4676	.|.	.|70	.|Q01628	.|IFM3_HUMAN	.|T	-1|70;49	.|ENSP00000382707:P70T;ENSP00000432108:P49T	.|ENSP00000382707:P70T	.|P	-|-	.|1	.|0	IFITM3|IFITM3	310606|310606	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.022000|0.022000	0.10575|0.10575	-1.460000|-1.460000	0.02368|0.02368	-3.272000|-3.272000	0.00199|0.00199	-2.532000|-2.532000	0.00182|0.00182	.|CCC		0.632	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1	NM_021034		4	149	1	0	1.76689e-08	0.335167	2.37426e-08	4	149				
KRTAP5-9	3846	broad.mit.edu	37	11	71259904	71259904	+	Silent	SNP	C	C	T			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr11:71259904C>T	ENST00000528743.2	+	1	439	c.201C>T	c.(199-201)ggC>ggT	p.G67G		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	67	8 X 4 AA repeats of C-C-X-P.				epidermis development (GO:0008544)	keratin filament (GO:0045095)		p.G67G(1)		kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						CCTGTGGGGGCTCCAAGGGAG	0.627																																						ENST00000528743.2																			1	Substitution - coding silent(1)	p.G67G(1)	prostate(1)	kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						c.(199-201)ggC>ggT		keratin associated protein 5-9							98.0	114.0	108.0					11																	71259904		2200	4293	6493	SO:0001819	synonymous_variant	3846				epidermis development	keratin filament		g.chr11:71259904C>T	AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"""Keratin associated proteins"""	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.201C>T	11.37:g.71259904C>T							p.G67G	NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN			1	439	+			67			8 X 4 AA repeats of C-C-X-P.		Q14564|Q3MIP8	Silent	SNP	ENST00000528743.2	37	c.201C>T	CCDS53677.1																																																																																				0.627	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393901.2			8	159	0	0	0	0.335167	0	8	159				
APLP2	334	broad.mit.edu	37	11	129979414	129979414	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr11:129979414C>A	ENST00000263574.5	+	2	268	c.196C>A	c.(196-198)Cag>Aag	p.Q66K	APLP2_ENST00000543137.1_5'UTR|APLP2_ENST00000338167.5_Missense_Mutation_p.Q66K|APLP2_ENST00000532456.1_3'UTR|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000278756.7_Missense_Mutation_p.Q76K|APLP2_ENST00000528499.1_Missense_Mutation_p.Q66K|APLP2_ENST00000345598.5_Missense_Mutation_p.Q66K	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	66					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.Q66K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGTGAACATTCAGACTGGGAA	0.458																																						ENST00000263574.5																			1	Substitution - Missense(1)	p.Q66K(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(196-198)Cag>Aag		amyloid beta (A4) precursor-like protein 2							112.0	101.0	105.0					11																	129979414		2201	4297	6498	SO:0001583	missense	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:129979414C>A	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.196C>A	11.37:g.129979414C>A	ENSP00000263574:p.Gln66Lys					APLP2_ENST00000532456.1_3'UTR|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000345598.5_Missense_Mutation_p.Q66K|APLP2_ENST00000338167.5_Missense_Mutation_p.Q66K|APLP2_ENST00000278756.7_Missense_Mutation_p.Q76K|APLP2_ENST00000528499.1_Missense_Mutation_p.Q66K|APLP2_ENST00000543137.1_5'UTR	p.Q66K	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	2	268	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	66					B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	c.196C>A	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	C	35	5.530539	0.96446	.	.	ENSG00000084234	ENST00000530416;ENST00000533195;ENST00000533713;ENST00000528499;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756	D;D;D;D;D	0.94330	-3.4;-1.8;-3.38;-1.93;-1.94	6.17	6.17	0.99709	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, heparin-binding (3);	0.000000	0.85682	D	0.000000	D	0.97259	0.9104	M	0.86651	2.83	0.80722	D	1	D;P;D;P;P	0.60575	0.988;0.948;0.982;0.948;0.868	D;P;D;P;P	0.72625	0.978;0.886;0.968;0.886;0.762	D	0.97086	0.9787	10	0.72032	D	0.01	-30.4612	19.8676	0.96824	0.0:1.0:0.0:0.0	.	66;66;66;66;66	Q06481;Q06481-2;Q06481-5;Q06481-4;Q06481-3	APLP2_HUMAN;.;.;.;.	K	13;91;51;66;66;66;66;76	ENSP00000435914:Q66K;ENSP00000263574:Q66K;ENSP00000263575:Q66K;ENSP00000345444:Q66K;ENSP00000278756:Q76K	ENSP00000263574:Q66K	Q	+	1	0	APLP2	129484624	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CAG		0.458	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642		3	46	1	0	0.115264	0.115264	0.133955	3	46				
FZD6	8323	broad.mit.edu	37	8	104340556	104340556	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr8:104340556A>G	ENST00000358755.4	+	5	1770	c.1453A>G	c.(1453-1455)Att>Gtt	p.I485V	FZD6_ENST00000540287.1_Missense_Mutation_p.I180V|FZD6_ENST00000523739.1_Missense_Mutation_p.I453V|FZD6_ENST00000522566.1_Missense_Mutation_p.I485V	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	485					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.I485V(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GATGACATTAATTGTTGGCAT	0.358																																						ENST00000358755.4																			1	Substitution - Missense(1)	p.I485V(1)	prostate(1)	central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1453-1455)Att>Gtt		frizzled family receptor 6							106.0	111.0	110.0					8																	104340556		2203	4300	6503	SO:0001583	missense	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104340556A>G	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1453A>G	8.37:g.104340556A>G	ENSP00000351605:p.Ile485Val					FZD6_ENST00000540287.1_Missense_Mutation_p.I180V|FZD6_ENST00000523739.1_Missense_Mutation_p.I453V|FZD6_ENST00000522566.1_Missense_Mutation_p.I485V	p.I485V	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		5	1770	+			485					B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	ENST00000358755.4	37	c.1453A>G	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.665214	0.29604	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43	5.31	5.31	0.75309	GPCR, family 2-like (1);	0.106321	0.64402	D	0.000004	T	0.61565	0.2357	N	0.04373	-0.215	0.42222	D	0.991855	B;B;B;B	0.27625	0.106;0.183;0.122;0.181	B;B;B;B	0.30782	0.08;0.12;0.064;0.08	T	0.61382	-0.7074	10	0.07482	T	0.82	.	15.5551	0.76187	1.0:0.0:0.0:0.0	.	430;180;485;485	B4E236;F5H831;B2R9H9;O60353	.;.;.;FZD6_HUMAN	V	485;485;453;180;430	ENSP00000429055:I485V;ENSP00000351605:I485V;ENSP00000429528:I453V;ENSP00000443757:I180V	ENSP00000351605:I485V	I	+	1	0	FZD6	104409732	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.846000	0.69444	2.125000	0.65367	0.383000	0.25322	ATT		0.358	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		14	47	0	0	0	0.479597	0	14	47				
KCNC4	3749	broad.mit.edu	37	1	110765671	110765671	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr1:110765671G>A	ENST00000369787.3	+	2	791	c.764G>A	c.(763-765)cGc>cAc	p.R255H	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Missense_Mutation_p.R255H|KCNC4_ENST00000413138.3_Missense_Mutation_p.R255H	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	255					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		AATATCGACCGCAACGTGACA	0.567																																						ENST00000369787.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32						c.(763-765)cGc>cAc		potassium voltage-gated channel, Shaw-related subfamily, member 4							184.0	155.0	165.0					1																	110765671		2203	4300	6503	SO:0001583	missense	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110765671G>A	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.764G>A	1.37:g.110765671G>A	ENSP00000358802:p.Arg255His					KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Missense_Mutation_p.R255H|KCNC4_ENST00000438661.2_Missense_Mutation_p.R255H	p.R255H	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	791	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	255					Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	c.764G>A	CCDS821.1	.	.	.	.	.	.	.	.	.	.	G	4.719	0.133637	0.09032	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.97328	-4.34;-4.34;-4.33	4.75	4.75	0.60458	.	0.540574	0.19555	N	0.111477	D	0.89206	0.6649	N	0.21194	0.64	0.34053	D	0.656361	B;B;B	0.21071	0.015;0.051;0.003	B;B;B	0.17722	0.008;0.019;0.005	D	0.85497	0.1189	10	0.39692	T	0.17	.	10.2994	0.43644	0.0:0.135:0.7076:0.1574	.	255;255;255	Q03721;Q03721-3;Q03721-2	KCNC4_HUMAN;.;.	H	255	ENSP00000358802:R255H;ENSP00000388029:R255H;ENSP00000393655:R255H	ENSP00000358802:R255H	R	+	2	0	KCNC4	110567194	0.250000	0.23951	1.000000	0.80357	0.584000	0.36387	2.588000	0.46137	2.342000	0.79632	0.462000	0.41574	CGC		0.567	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		4	134	0	0	0	0.150653	0	4	134				
DNAH7	56171	broad.mit.edu	37	2	196681466	196681467	+	Frame_Shift_Ins	INS	-	-	A	rs201637136		TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr2:196681466_196681467insA	ENST00000312428.6	-	51	9746_9747	c.9646_9647insT	c.(9646-9648)tctfs	p.S3216fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3216					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCAGCAAGAGAAAAAAATAGG	0.411																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(9646-9648)tctfs		dynein, axonemal, heavy chain 7																																				SO:0001589	frameshift_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196681466_196681467insA	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9647dupT	2.37:g.196681473_196681473dupA	ENSP00000311273:p.Ser3216fs						p.S3216fs	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			51	9746_9747	-			3216					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Ins	INS	ENST00000312428.6	37	c.9646_9647insT	CCDS42794.1																																																																																				0.411	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		12	95						12	95	---	---	---	---
RP11-608O21.1	0	broad.mit.edu	37	4	19815894	19815895	+	lincRNA	INS	-	-	A	rs397992461|rs71179253|rs371862528		TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr4:19815894_19815895insA	ENST00000511431.1	+	0	288																											CTCTGGGCTGTaaaaaaaaaaa	0.416																																						ENST00000511431.1																			0																																																			0							g.chr4:19815894_19815895insA																													4.37:g.19815905_19815905dupA														0	288	+									RNA	INS	ENST00000511431.1	37																																																																																						0.416	RP11-608O21.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000359397.1			3	6						3	6	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100349724	100349724	+	RNA	DEL	G	G	-			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr7:100349724delG	ENST00000348028.3	+	0	2161				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACCCCCACTGAGGAGACCAC	0.537																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							172.0	196.0	188.0					7																	100349724		1891	4114	6005			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100349724delG	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349724delG						ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2144	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.537	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		15	34						15	34	---	---	---	---
CD68	968	broad.mit.edu	37	17	7483262	7483263	+	Frame_Shift_Del	DEL	CA	CA	-	rs143998725		TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr17:7483262_7483263delCA	ENST00000250092.6	+	2	395_396	c.184_185delCA	c.(184-186)cacfs	p.H62fs	AC113189.5_ENST00000573187.1_RNA|CD68_ENST00000380498.6_Frame_Shift_Del_p.H35fs|SNORD10_ENST00000459579.1_RNA|SNORA67_ENST00000384423.1_RNA|AC113189.5_ENST00000572046.1_RNA|AC113189.5_ENST00000415124.1_RNA|AC113189.5_ENST00000417897.1_RNA|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	62	Mucin-like.				cellular response to organic substance (GO:0071310)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|skin(1)	3						Aaccaccactcacaggacaacc	0.564																																						ENST00000250092.6																			0				endometrium(1)|lung(1)|skin(1)	3						c.(184-186)cfs		CD68 molecule																																				SO:0001589	frameshift_variant	968					endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane		g.chr17:7483262_7483263delCA	S57235	CCDS11114.1, CCDS58512.1	17p13	2011-11-24	2006-03-28		ENSG00000129226	ENSG00000129226		"""CD molecules"""	1693	protein-coding gene	gene with protein product	"""scavenger receptor class D, member 1"", ""CD68 antigen"", ""macrophage antigen CD68"""	153634	"""CD68 antigen"""			9790779	Standard	NM_001251		Approved	SCARD1, macrosialin, GP110, DKFZp686M18236, LAMP4	uc002ghv.3	P34810	OTTHUMG00000108146	ENST00000250092.6:c.184_185delCA	17.37:g.7483264_7483265delCA	ENSP00000250092:p.His62fs					CD68_ENST00000380498.6_Frame_Shift_Del_p.H35fs	p.H62fs	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN			2	395_396	+			62			Mucin-like.		B4DVT4|Q53HR6|Q53XI3|Q96BI7	Frame_Shift_Del	DEL	ENST00000250092.6	37	c.184_185delCA	CCDS11114.1																																																																																				0.564	CD68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226949.3	NM_001251		14	24						14	24	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196681466	196681467	+	Frame_Shift_Ins	INS	-	-	A	rs201637136		TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr2:196681466_196681467insA	ENST00000312428.6	-	51	9746_9747	c.9646_9647insT	c.(9646-9648)tctfs	p.S3216fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3216					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCAGCAAGAGAAAAAAATAGG	0.411																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(9646-9648)tctfs		dynein, axonemal, heavy chain 7																																				SO:0001589	frameshift_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196681466_196681467insA	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9647dupT	2.37:g.196681473_196681473dupA	ENSP00000311273:p.Ser3216fs						p.S3216fs	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			51	9746_9747	-			3216					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Ins	INS	ENST00000312428.6	37	c.9646_9647insT	CCDS42794.1																																																																																				0.411	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		12	95						12	95	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100349724	100349724	+	RNA	DEL	G	G	-			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr7:100349724delG	ENST00000348028.3	+	0	2161				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACCCCCACTGAGGAGACCAC	0.537																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							172.0	196.0	188.0					7																	100349724		1891	4114	6005			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100349724delG	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349724delG						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2144	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.537	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		15	34						15	34	---	---	---	---
HNRNPKP3	399881	broad.mit.edu	37	11	43283605	43283606	+	RNA	INS	-	-	A	rs377012965|rs201499316		TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr11:43283605_43283606insA	ENST00000511537.1	-	0	1329_1330					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		GAAGCAAATGTAAAAAAAAAAA	0.386																																						ENST00000511537.1																			0																																																			0							g.chr11:43283605_43283606insA			11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43283616_43283616dupA								NR_033868.1						0	1329_1330	-									RNA	INS	ENST00000511537.1	37																																																																																						0.386	HNRNPKP3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390385.1	NR_033868		4	5						4	5	---	---	---	---
LOC101928880	101928880	broad.mit.edu	37	16	88226611	88226611	+	lincRNA	DEL	G	G	-			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr16:88226611delG	ENST00000569362.1	+	0	0				RP11-863P13.2_ENST00000568587.1_lincRNA																							tggtggtgatggtggtgatgg	0.522																																						ENST00000568587.1																			0																																																			0							g.chr16:88226611delG																													16.37:g.88226611delG														0	91	-									RNA	DEL	ENST00000569362.1	37																																																																																						0.522	LA16c-444G7.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000430450.1			2	4						2	4	---	---	---	---
CD68	968	broad.mit.edu	37	17	7483262	7483263	+	Frame_Shift_Del	DEL	CA	CA	-	rs143998725		TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr17:7483262_7483263delCA	ENST00000250092.6	+	2	395_396	c.184_185delCA	c.(184-186)cacfs	p.H62fs	AC113189.5_ENST00000573187.1_RNA|CD68_ENST00000380498.6_Frame_Shift_Del_p.H35fs|SNORD10_ENST00000459579.1_RNA|SNORA67_ENST00000384423.1_RNA|AC113189.5_ENST00000572046.1_RNA|AC113189.5_ENST00000415124.1_RNA|AC113189.5_ENST00000417897.1_RNA|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	62	Mucin-like.				cellular response to organic substance (GO:0071310)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|skin(1)	3						Aaccaccactcacaggacaacc	0.564																																						ENST00000250092.6																			0				endometrium(1)|lung(1)|skin(1)	3						c.(184-186)cfs		CD68 molecule																																				SO:0001589	frameshift_variant	968					endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane		g.chr17:7483262_7483263delCA	S57235	CCDS11114.1, CCDS58512.1	17p13	2011-11-24	2006-03-28		ENSG00000129226	ENSG00000129226		"""CD molecules"""	1693	protein-coding gene	gene with protein product	"""scavenger receptor class D, member 1"", ""CD68 antigen"", ""macrophage antigen CD68"""	153634	"""CD68 antigen"""			9790779	Standard	NM_001251		Approved	SCARD1, macrosialin, GP110, DKFZp686M18236, LAMP4	uc002ghv.3	P34810	OTTHUMG00000108146	ENST00000250092.6:c.184_185delCA	17.37:g.7483264_7483265delCA	ENSP00000250092:p.His62fs					CD68_ENST00000380498.6_Frame_Shift_Del_p.H35fs	p.H62fs	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN			2	395_396	+			62			Mucin-like.		B4DVT4|Q53HR6|Q53XI3|Q96BI7	Frame_Shift_Del	DEL	ENST00000250092.6	37	c.184_185delCA	CCDS11114.1																																																																																				0.564	CD68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226949.3	NM_001251		14	24						14	24	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	07cacee5-a87f-4141-a61f-d7e0f69cfc1d	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085863_11085864insC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085865_11085865dupC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.579	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
