#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
PCDHGA9	56107	broad.mit.edu	37	5	140783165	140783165	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr5:140783165G>T	ENST00000573521.1	+	1	646	c.646G>T	c.(646-648)Gat>Tat	p.D216Y	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	216	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGCCTCGGATGGCGGCGA	0.597																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(646-648)Gat>Tat									27.0	32.0	30.0					5																	140783165		2045	4187	6232	SO:0001583	missense	0							g.chr5:140783165G>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.646G>T	5.37:g.140783165G>T	ENSP00000460274:p.Asp216Tyr					PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.D216Y	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	646	+								A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.646G>T	CCDS58981.1																																																																																				0.597	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		10	52	1	0	7.48243e-07	1	8.058e-07	10	52				
RXFP2	122042	broad.mit.edu	37	13	32371547	32371547	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr13:32371547G>A	ENST00000298386.2	+	17	2067	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K	RXFP2_ENST00000380314.1_Missense_Mutation_p.E642K	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	666					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CTTCCGGGTGGAAATACCAGG	0.408																																						ENST00000298386.2																			0				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33						c.(1996-1998)Gaa>Aaa		relaxin/insulin-like family peptide receptor 2							141.0	136.0	138.0					13																	32371547		2203	4300	6503	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32371547G>A	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1996G>A	13.37:g.32371547G>A	ENSP00000298386:p.Glu666Lys					RXFP2_ENST00000380314.1_Missense_Mutation_p.E642K	p.E666K	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	17	2067	+		Lung SC(185;0.0262)	666					B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.1996G>A	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	G	31	5.068301	0.93950	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.71934	-0.61;-0.61	5.42	5.42	0.78866	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.80549	0.4644	L	0.58669	1.825	0.58432	D	0.999999	D;D	0.56035	0.974;0.974	P;P	0.60609	0.877;0.877	T	0.78445	-0.2201	10	0.37606	T	0.19	.	19.2083	0.93744	0.0:0.0:1.0:0.0	.	642;666	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	K	642;666	ENSP00000369670:E642K;ENSP00000298386:E666K	ENSP00000298386:E666K	E	+	1	0	RXFP2	31269547	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.297000	0.78799	2.563000	0.86464	0.655000	0.94253	GAA		0.408	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		21	28	0	0	0	1	0	21	28				
TMEM151A	256472	broad.mit.edu	37	11	66061863	66061863	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr11:66061863C>A	ENST00000327259.4	+	2	290	c.146C>A	c.(145-147)aCg>aAg	p.T49K		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	49						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(4)|lung(6)	11						CTGCTCCTCACGCTGCTCATC	0.706																																						ENST00000327259.4																			0				central_nervous_system(1)|kidney(4)|lung(6)	11						c.(145-147)aCg>aAg		transmembrane protein 151A							41.0	41.0	41.0					11																	66061863		2198	4295	6493	SO:0001583	missense	256472					integral to membrane		g.chr11:66061863C>A	BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292			28497	protein-coding gene	gene with protein product			"""transmembrane protein 151"""	TMEM151		12477932	Standard	NM_153266		Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.146C>A	11.37:g.66061863C>A	ENSP00000326244:p.Thr49Lys						p.T49K	NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN			2	290	+			49					Q8ND14	Missense_Mutation	SNP	ENST00000327259.4	37	c.146C>A	CCDS8133.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544961	0.86022	.	.	ENSG00000179292	ENST00000327259	.	.	.	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000001	T	0.67297	0.2878	L	0.53249	1.67	0.54753	D	0.999987	D	0.56287	0.975	P	0.56648	0.803	T	0.71869	-0.4462	9	0.87932	D	0	.	16.2455	0.82441	0.0:1.0:0.0:0.0	.	49	Q8N4L1	T151A_HUMAN	K	49	.	ENSP00000326244:T49K	T	+	2	0	TMEM151A	65818439	1.000000	0.71417	0.997000	0.53966	0.881000	0.50899	7.572000	0.82409	2.368000	0.80403	0.462000	0.41574	ACG		0.706	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391897.1	NM_153266		33	44	1	0	2.48696e-23	1	2.94232e-23	33	44				
TYK2	7297	broad.mit.edu	37	19	10464234	10464234	+	Silent	SNP	C	C	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr19:10464234C>T	ENST00000525621.1	-	21	3478	c.2997G>A	c.(2995-2997)caG>caA	p.Q999Q	TYK2_ENST00000524462.1_Silent_p.Q814Q|TYK2_ENST00000529422.1_5'Flank|TYK2_ENST00000264818.6_Silent_p.Q999Q	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	999	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGAGCAGCAGCTGGGCCAGCC	0.677																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(2995-2997)caG>caA		tyrosine kinase 2							19.0	22.0	21.0					19																	10464234		2188	4287	6475	SO:0001819	synonymous_variant	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10464234C>T		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2997G>A	19.37:g.10464234C>T						TYK2_ENST00000264818.6_Silent_p.Q999Q|TYK2_ENST00000524462.1_Silent_p.Q814Q	p.Q999Q	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		21	3478	-			999			Protein kinase 2.		Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	c.2997G>A	CCDS12236.1																																																																																				0.677	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			10	10	0	0	0	1	0	10	10				
CAPN12	147968	broad.mit.edu	37	19	39233710	39233710	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr19:39233710T>A	ENST00000328867.4	-	2	578	c.270A>T	c.(268-270)gaA>gaT	p.E90D	CAPN12_ENST00000601953.1_Intron	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	90	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)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GGCTCATGTCTTCACAGATGA	0.572																																						ENST00000328867.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(268-270)gaA>gaT		calpain 12							88.0	76.0	80.0					19																	39233710		2203	4300	6503	SO:0001583	missense	147968				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:39233710T>A	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.270A>T	19.37:g.39233710T>A	ENSP00000331636:p.Glu90Asp					CAPN12_ENST00000601953.1_Intron	p.E90D	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		2	578	-	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		90			Calpain catalytic.			Missense_Mutation	SNP	ENST00000328867.4	37	c.270A>T	CCDS12519.1	.	.	.	.	.	.	.	.	.	.	t	4.929	0.172693	0.09391	.	.	ENSG00000182472	ENST00000328867	T	0.14516	2.5	4.97	-1.82	0.07857	Peptidase C2, calpain, catalytic domain (3);	0.123876	0.53938	D	0.000055	T	0.12987	0.0315	N	0.17674	0.51	0.30488	N	0.77166	D	0.64830	0.994	P	0.62298	0.9	T	0.21552	-1.0242	10	0.16420	T	0.52	.	7.7432	0.28853	0.135:0.6369:0.0:0.2281	.	90	Q6ZSI9	CAN12_HUMAN	D	90	ENSP00000331636:E90D	ENSP00000331636:E90D	E	-	3	2	CAPN12	43925550	0.082000	0.21442	0.996000	0.52242	0.471000	0.32888	-0.979000	0.03774	-0.249000	0.09569	-0.473000	0.04963	GAA		0.572	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			9	68	0	0	0	1	0	9	68				
TTC39C	125488	broad.mit.edu	37	18	21663037	21663037	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr18:21663037C>T	ENST00000317571.3	+	6	1212	c.976C>T	c.(976-978)Cga>Tga	p.R326*	RP11-403A21.3_ENST00000578443.1_RNA|TTC39C_ENST00000304621.6_Nonsense_Mutation_p.R265*	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	326										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						ACGGATACAACGACTAGAGGT	0.393																																						ENST00000317571.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						c.(976-978)Cga>Tga		tetratricopeptide repeat domain 39C							88.0	89.0	89.0					18																	21663037		2203	4300	6503	SO:0001587	stop_gained	125488						binding	g.chr18:21663037C>T	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"""Tetratricopeptide (TTC) repeat domain containing"""	26595	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 17"""	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.976C>T	18.37:g.21663037C>T	ENSP00000323645:p.Arg326*					RP11-403A21.3_ENST00000578443.1_RNA|TTC39C_ENST00000304621.6_Nonsense_Mutation_p.R265*	p.R326*	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN			6	1212	+			326					B7WP63|J3QRR1|Q0VAJ2|Q8N284	Nonsense_Mutation	SNP	ENST00000317571.3	37	c.976C>T	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	C	39	7.633023	0.98403	.	.	ENSG00000168234	ENST00000304621;ENST00000317571	.	.	.	5.8	4.85	0.62838	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4044	17.5815	0.87970	0.1319:0.8681:0.0:0.0	.	.	.	.	X	265;326	.	ENSP00000306598:R265X	R	+	1	2	TTC39C	19917035	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.828000	0.48120	2.737000	0.93849	0.557000	0.71058	CGA		0.393	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		6	38	0	0	0	1	0	6	38				
CROCCP2	84809	broad.mit.edu	37	1	16946393	16946393	+	lincRNA	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr1:16946393G>A	ENST00000412962.1	-	0	1126				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TCCTGCTGCAGGGCAGCAATC	0.662																																						ENST00000412962.1																			0																																																			0							g.chr1:16946393G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946393G>A														0	1126	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.662	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	37	0	0	0	1	0	5	37				
CDH16	1014	broad.mit.edu	37	16	66946577	66946577	+	Silent	SNP	G	G	A	rs145180383		TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr16:66946577G>A	ENST00000299752.4	-	10	1465	c.1272C>T	c.(1270-1272)ggC>ggT	p.G424G	CDH16_ENST00000568632.1_Silent_p.G327G|CDH16_ENST00000565796.1_Silent_p.G424G|CDH16_ENST00000570262.1_Silent_p.G344G|CDH16_ENST00000394055.3_Silent_p.G424G	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	424	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CACCCTCTGCGCCTGCCAGGT	0.637													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17708	0.0		0.0	False		,,,				2504	0.0					ENST00000299752.4																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1270-1272)ggC>ggT		cadherin 16, KSP-cadherin		G	,,,	1,4399	2.1+/-5.4	0,1,2199	55.0	52.0	53.0		1272,1272,981,1272	2.6	1.0	16	dbSNP_134	53	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CDH16	NM_001204744.1,NM_001204745.1,NM_001204746.1,NM_004062.3	,,,	0,4,6496	AA,AG,GG		0.0349,0.0227,0.0308	,,,	424/808,424/791,327/733,424/830	66946577	4,12996	2200	4300	6500	SO:0001819	synonymous_variant	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66946577G>A	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1272C>T	16.37:g.66946577G>A						CDH16_ENST00000568632.1_Silent_p.G327G|CDH16_ENST00000570262.1_Silent_p.G344G|CDH16_ENST00000565796.1_Silent_p.G424G|CDH16_ENST00000394055.3_Silent_p.G424G	p.G424G	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	10	1465	-		Ovarian(137;0.0563)	424			Cadherin 4.		B4DPA8|H3BPD3|Q6UW93	Silent	SNP	ENST00000299752.4	37	c.1272C>T	CCDS10823.1																																																																																				0.637	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		14	29	0	0	0	1	0	14	29				
ARFGEF2	10564	broad.mit.edu	37	20	47588909	47588909	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr20:47588909G>T	ENST00000371917.4	+	11	1472	c.1472G>T	c.(1471-1473)aGt>aTt	p.S491I		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	491					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ACATCAACAAGTTCTTTTGAG	0.413																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(1471-1473)aGt>aTt		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							100.0	98.0	99.0					20																	47588909		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47588909G>T	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1472G>T	20.37:g.47588909G>T	ENSP00000360985:p.Ser491Ile						p.S491I	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		11	1472	+			491					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.1472G>T	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	32	5.116163	0.94339	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.67865	-0.29	5.91	5.91	0.95273	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86272	0.5893	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87929	0.2709	10	0.87932	D	0	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	491	Q9Y6D5	BIG2_HUMAN	I	491	ENSP00000360985:S491I	ENSP00000360985:S491I	S	+	2	0	ARFGEF2	47022316	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.793000	0.96121	0.655000	0.94253	AGT		0.413	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		12	22	1	0	9.31168e-06	1	9.77726e-06	12	22				
FAM216A	29902	broad.mit.edu	37	12	110924408	110924408	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:110924408C>T	ENST00000377673.5	+	5	1018	c.506C>T	c.(505-507)aCa>aTa	p.T169I		NM_013300.2	NP_037432.2	Q8WUB2	F216A_HUMAN	family with sequence similarity 216, member A	169																	CCTTGCACTACATGGCGACAT	0.507																																						ENST00000377673.5																			0											c.(505-507)aCa>aTa		family with sequence similarity 216, member A							160.0	164.0	163.0					12																	110924408		2203	4300	6503	SO:0001583	missense	29902							g.chr12:110924408C>T	U79274	CCDS31899.1	12q24.11	2012-02-07	2012-02-07	2012-02-07	ENSG00000204856	ENSG00000204856			30180	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 24"""	C12orf24			Standard	NM_013300		Approved	HSU79274	uc001tqu.4	Q8WUB2	OTTHUMG00000169526	ENST00000377673.5:c.506C>T	12.37:g.110924408C>T	ENSP00000366901:p.Thr169Ile						p.T169I	NM_013300.2	NP_037432.2	Q8WUB2	CL024_HUMAN			5	1018	+			169					A6NH30|Q99776	Missense_Mutation	SNP	ENST00000377673.5	37	c.506C>T	CCDS31899.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745425	0.69418	.	.	ENSG00000204856	ENST00000377673;ENST00000538285;ENST00000548869	T	0.53423	0.62	3.9	3.9	0.45041	.	0.194901	0.25523	N	0.030095	T	0.59783	0.2219	L	0.54323	1.7	0.80722	D	1	D;D;D	0.67145	0.979;0.996;0.992	P;D;P	0.66351	0.801;0.943;0.876	T	0.62817	-0.6774	10	0.72032	D	0.01	-7.1908	11.5931	0.50957	0.0:1.0:0.0:0.0	.	169;169;169	B4DJX7;F5GZE4;Q8WUB2	.;.;CL024_HUMAN	I	169;169;75	ENSP00000366901:T169I	ENSP00000366901:T169I	T	+	2	0	C12orf24	109408791	0.988000	0.35896	0.977000	0.42913	0.852000	0.48524	1.295000	0.33377	2.167000	0.68274	0.467000	0.42956	ACA		0.507	FAM216A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404616.1	NM_013300		66	93	0	0	0	1	0	66	93				
TF	7018	broad.mit.edu	37	3	133465321	133465321	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:133465321G>A	ENST00000402696.3	+	1	522	c.37G>A	c.(37-39)Gtc>Atc	p.V13I	TFP1_ENST00000460564.1_RNA|TF_ENST00000264998.3_5'UTR	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	13					blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	GGTCTGCGCCGTCCTGGGTGA	0.736																																						ENST00000402696.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(37-39)Gtc>Atc		transferrin	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						14.0	15.0	15.0					3																	133465321		2194	4287	6481	SO:0001583	missense	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133465321G>A		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.37G>A	3.37:g.133465321G>A	ENSP00000385834:p.Val13Ile					TF_ENST00000264998.3_5'UTR|TFP1_ENST00000460564.1_RNA	p.V13I	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN			1	522	+			13					O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.37G>A	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	G	9.593	1.126657	0.20959	.	.	ENSG00000091513	ENST00000402696	T	0.02121	4.44	4.67	-1.77	0.07982	.	0.929072	0.09359	N	0.812960	T	0.01730	0.0055	L	0.35723	1.085	0.23232	N	0.998075	B	0.21147	0.052	B	0.08055	0.003	T	0.49163	-0.8968	10	0.16896	T	0.51	-2.3118	3.4146	0.07371	0.2674:0.0:0.2879:0.4447	.	13	P02787	TRFE_HUMAN	I	13	ENSP00000385834:V13I	ENSP00000385834:V13I	V	+	1	0	TF	134948011	0.003000	0.15002	0.213000	0.23690	0.691000	0.40173	-0.148000	0.10219	-0.231000	0.09825	0.561000	0.74099	GTC		0.736	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		3	25	0	0	0	1	0	3	25				
PPFIBP1	8496	broad.mit.edu	37	12	27835611	27835611	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:27835611G>T	ENST00000318304.8	+	23	2523	c.2240G>T	c.(2239-2241)gGt>gTt	p.G747V	PPFIBP1_ENST00000228425.6_Missense_Mutation_p.G741V|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.G716V|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.G594V	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	747	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CGGGTTGATGGTCGAATGCTA	0.448																																						ENST00000318304.8																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(2239-2241)gGt>gTt		PTPRF interacting protein, binding protein 1 (liprin beta 1)							165.0	158.0	160.0					12																	27835611		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27835611G>T	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2240G>T	12.37:g.27835611G>T	ENSP00000314724:p.Gly747Val					PPFIBP1_ENST00000537927.1_Missense_Mutation_p.G594V|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.G741V|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.G716V	p.G747V	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN			23	2523	+	Lung SC(9;0.0873)		747			SAM 2.		O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.2240G>T	CCDS55812.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.5|25.5	4.641112|4.641112	0.87859|0.87859	.|.	.|.	ENSG00000110841|ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425|ENST00000539326	T;T;T;T;T|.	0.56611|.	0.45;0.45;0.45;0.45;0.45|.	5.26|5.26	5.26|5.26	0.73747|0.73747	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);|.	0.000000|.	0.34802|.	U|.	0.003663|.	D|D	0.84347|0.84347	0.5452|0.5452	M|M	0.89214|0.89214	3.015|3.015	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;0.999;1.0|.	D|D	0.86972|0.86972	0.2098|0.2098	10|5	0.87932|.	D|.	0|.	-19.2059|-19.2059	18.4819|18.4819	0.90815|0.90815	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	594;578;747;741;716|.	Q86W92-3;F5GZP6;Q86W92;Q86W92-2;Q86W92-4|.	.;.;LIPB1_HUMAN;.;.|.	V|F	578;594;747;716;741|19	ENSP00000444304:G578V;ENSP00000445425:G594V;ENSP00000314724:G747V;ENSP00000443442:G716V;ENSP00000228425:G741V|.	ENSP00000228425:G741V|.	G|V	+|+	2|1	0|0	PPFIBP1|PPFIBP1	27726878|27726878	1.000000|1.000000	0.71417|0.71417	0.935000|0.935000	0.37517|0.37517	0.780000|0.780000	0.44128|0.44128	9.690000|9.690000	0.98676|0.98676	2.450000|2.450000	0.82876|0.82876	0.655000|0.655000	0.94253|0.94253	GGT|GTC		0.448	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		35	77	1	0	5.71845e-15	1	6.58013e-15	35	77				
STAB2	55576	broad.mit.edu	37	12	104134472	104134472	+	Missense_Mutation	SNP	G	G	A	rs139559759		TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:104134472G>A	ENST00000388887.2	+	55	6023	c.5819G>A	c.(5818-5820)cGg>cAg	p.R1940Q		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGCCGGGAGCGGTGCAGCCTG	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18750	0.0		0.0	False		,,,				2504	0.0					ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(5818-5820)cGg>cAg		stabilin 2		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	96.0	89.0	91.0		5819	-6.3	0.0	12	dbSNP_134	91	0,8600		0,0,4300	yes	missense	STAB2	NM_017564.9	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1940/2552	104134472	1,13005	2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104134472G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5819G>A	12.37:g.104134472G>A	ENSP00000373539:p.Arg1940Gln						p.R1940Q	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			55	6023	+			1940						Missense_Mutation	SNP	ENST00000388887.2	37	c.5819G>A	CCDS31888.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	6.021	0.372209	0.11409	2.27E-4	0.0	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.83673	-1.75	5.46	-6.26	0.02033	.	1.919750	0.02368	N	0.077525	T	0.60209	0.2251	N	0.04090	-0.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.51244	-0.8730	10	0.26408	T	0.33	.	4.6907	0.12780	0.2621:0.0994:0.0634:0.5751	.	1940	Q8WWQ8	STAB2_HUMAN	Q	1940;627	ENSP00000373539:R1940Q	ENSP00000258495:R627Q	R	+	2	0	STAB2	102658602	0.001000	0.12720	0.003000	0.11579	0.406000	0.30931	0.272000	0.18644	-0.815000	0.04346	-0.290000	0.09829	CGG		0.577	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			22	88	0	0	0	1	0	22	88				
CUL2	8453	broad.mit.edu	37	10	35318439	35318439	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr10:35318439T>G	ENST00000374748.1	-	16	1829	c.1516A>C	c.(1516-1518)Agt>Cgt	p.S506R	CUL2_ENST00000374749.3_Missense_Mutation_p.S506R|CUL2_ENST00000537177.1_Missense_Mutation_p.S525R|CUL2_ENST00000374742.1_Missense_Mutation_p.S506R|CUL2_ENST00000602371.1_Missense_Mutation_p.S449R|CUL2_ENST00000374751.3_Missense_Mutation_p.S506R|CUL2_ENST00000374746.1_Missense_Mutation_p.S506R			Q13617	CUL2_HUMAN	cullin 2	506					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						ATTTGAAAACTAATTCCCAAA	0.318																																						ENST00000374748.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						c.(1516-1518)Agt>Cgt		cullin 2							75.0	71.0	72.0					10																	35318439		2203	4300	6503	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35318439T>G	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.1516A>C	10.37:g.35318439T>G	ENSP00000363880:p.Ser506Arg					CUL2_ENST00000374742.1_Missense_Mutation_p.S506R|CUL2_ENST00000374746.1_Missense_Mutation_p.S506R|CUL2_ENST00000374749.3_Missense_Mutation_p.S506R|CUL2_ENST00000537177.1_Missense_Mutation_p.S525R|CUL2_ENST00000602371.1_Missense_Mutation_p.S449R|CUL2_ENST00000374751.3_Missense_Mutation_p.S506R	p.S506R			Q13617	CUL2_HUMAN			16	1829	-			506					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.1516A>C	CCDS7179.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.338582	0.81911	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177	T;T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78;-0.78	6.06	6.06	0.98353	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	T	0.75925	0.3916	L	0.32530	0.975	0.80722	D	1	P;P;P	0.47034	0.889;0.778;0.814	P;P;P	0.52554	0.641;0.577;0.702	T	0.78198	-0.2297	10	0.66056	D	0.02	-22.4513	16.6245	0.84952	0.0:0.0:0.0:1.0	.	506;525;506	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	R	506;506;506;506;449;506;525	ENSP00000363883:S506R;ENSP00000363880:S506R;ENSP00000363878:S506R;ENSP00000363881:S506R;ENSP00000363874:S506R;ENSP00000444856:S525R	ENSP00000363874:S506R	S	-	1	0	CUL2	35358445	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.282000	0.72639	2.323000	0.78572	0.528000	0.53228	AGT		0.318	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		8	15	0	0	0	1	0	8	15				
CAMK2A	815	broad.mit.edu	37	5	149602570	149602570	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr5:149602570G>A	ENST00000348628.6	-	17	2080	c.1415C>T	c.(1414-1416)gCg>gTg	p.A472V	CAMK2A_ENST00000398376.3_Missense_Mutation_p.A483V|CAMK2A_ENST00000351010.6_5'UTR	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	472					calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACGGAGGGCGCCCCAGATCT	0.642																																						ENST00000348628.6																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15						c.(1414-1416)gCg>gTg		calcium/calmodulin-dependent protein kinase II alpha							69.0	80.0	76.0					5																	149602570		2147	4274	6421	SO:0001583	missense	815				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:149602570G>A	AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.1415C>T	5.37:g.149602570G>A	ENSP00000261793:p.Ala472Val					CAMK2A_ENST00000398376.3_Missense_Mutation_p.A483V|CAMK2A_ENST00000351010.6_5'UTR	p.A472V	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	2080	-		all_hematologic(541;0.224)	472					Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	ENST00000348628.6	37	c.1415C>T	CCDS43386.1	.	.	.	.	.	.	.	.	.	.	G	34	5.314976	0.95655	.	.	ENSG00000070808	ENST00000348628;ENST00000398376	T;T	0.46451	0.87;0.87	5.15	5.15	0.70609	Calcium/calmodulin-dependent protein kinase II, association-domain (1);	0.078678	0.52532	U	0.000074	T	0.51024	0.1650	L	0.49126	1.545	0.50632	D	0.999886	P;B;P	0.47910	0.902;0.078;0.902	P;B;P	0.49999	0.628;0.151;0.628	T	0.53802	-0.8387	10	0.62326	D	0.03	.	18.6945	0.91596	0.0:0.0:1.0:0.0	.	472;483;472	Q9UQM7;A8K161;Q7LDD5	KCC2A_HUMAN;.;.	V	472;483	ENSP00000261793:A472V;ENSP00000381412:A483V	ENSP00000261793:A472V	A	-	2	0	CAMK2A	149582763	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.419000	0.82065	0.555000	0.69702	GCG		0.642	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258869.2	NM_015981		62	135	0	0	0	1	0	62	135				
C3orf17	25871	broad.mit.edu	37	3	112732806	112732806	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:112732806G>A	ENST00000314400.5	-	3	526	c.335C>T	c.(334-336)tCt>tTt	p.S112F	C3orf17_ENST00000472762.1_5'Flank|C3orf17_ENST00000393857.2_5'UTR|C3orf17_ENST00000383675.2_Missense_Mutation_p.S112F	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	112					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						TTACTTGGAAGAAAACAACTC	0.408																																						ENST00000314400.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						c.(334-336)tCt>tTt		chromosome 3 open reading frame 17							219.0	216.0	217.0					3																	112732806		2203	4300	6503	SO:0001583	missense	25871					integral to membrane		g.chr3:112732806G>A	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.335C>T	3.37:g.112732806G>A	ENSP00000320251:p.Ser112Phe					C3orf17_ENST00000393857.2_5'UTR|C3orf17_ENST00000383675.2_Missense_Mutation_p.S112F	p.S112F	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN			3	526	-			112					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Missense_Mutation	SNP	ENST00000314400.5	37	c.335C>T	CCDS33824.1	.	.	.	.	.	.	.	.	.	.	G	4.567	0.105412	0.08731	.	.	ENSG00000163608	ENST00000314400;ENST00000383675;ENST00000472166	T;T;T	0.47869	0.83;0.83;0.83	4.5	2.67	0.31697	.	0.151474	0.64402	D	0.000012	T	0.32852	0.0843	L	0.38531	1.155	0.80722	D	1	B;B;B	0.20671	0.018;0.013;0.047	B;B;B	0.19946	0.027;0.01;0.022	T	0.10894	-1.0610	10	0.40728	T	0.16	-10.1463	5.6455	0.17586	0.0989:0.0:0.7087:0.1924	.	15;112;112	E7EN80;Q6NW34-2;Q6NW34	.;.;CC017_HUMAN	F	112;112;37	ENSP00000320251:S112F;ENSP00000373173:S112F;ENSP00000417613:S37F	ENSP00000320251:S112F	S	-	2	0	C3orf17	114215496	1.000000	0.71417	0.961000	0.40146	0.664000	0.39144	3.446000	0.52928	0.807000	0.34208	-0.254000	0.11334	TCT		0.408	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		84	133	0	0	0	1	0	84	133				
WIF1	11197	broad.mit.edu	37	12	65461496	65461496	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:65461496G>T	ENST00000286574.4	-	5	987	c.613C>A	c.(613-615)Cac>Aac	p.H205N		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	205	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TGAGGTCCGTGGAACCCATCA	0.507			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	ENST00000286574.4				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		0				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(613-615)Cac>Aac		WNT inhibitory factor 1							103.0	88.0	93.0					12																	65461496		2203	4300	6503	SO:0001583	missense	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65461496G>T	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.613C>A	12.37:g.65461496G>T	ENSP00000286574:p.His205Asn						p.H205N	NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	5	987	-			205			EGF-like 1.		Q6UXI1|Q8WVG4	Missense_Mutation	SNP	ENST00000286574.4	37	c.613C>A	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509483	0.27036	.	.	ENSG00000156076	ENST00000286574	T	0.41065	1.01	5.64	3.14	0.36123	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.196582	0.45126	D	0.000393	T	0.19525	0.0469	N	0.04768	-0.165	0.23624	N	0.99727	B	0.10296	0.003	B	0.12156	0.007	T	0.20840	-1.0263	9	.	.	.	.	9.2352	0.37461	0.8443:0.0:0.1557:0.0	.	205	Q9Y5W5	WIF1_HUMAN	N	205	ENSP00000286574:H205N	.	H	-	1	0	WIF1	63747763	1.000000	0.71417	0.853000	0.33588	0.336000	0.28762	4.502000	0.60400	0.495000	0.27882	-0.290000	0.09829	CAC		0.507	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			5	23	1	0	0.0215528	1	0.0218124	5	23				
SLC7A5	8140	broad.mit.edu	37	16	87872329	87872329	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr16:87872329G>A	ENST00000261622.4	-	6	1099	c.1034C>T	c.(1033-1035)aCa>aTa	p.T345I	SLC7A5_ENST00000565644.1_Missense_Mutation_p.T79I|RP4-536B24.2_ENST00000563687.1_RNA	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	345					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	CCTGGAGGATGTGAACAGGGA	0.587																																						ENST00000261622.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10						c.(1033-1035)aCa>aTa		solute carrier family 7 (amino acid transporter light chain, L system), member 5							157.0	131.0	140.0					16																	87872329		2198	4300	6498	SO:0001583	missense	8140				blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr16:87872329G>A	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"""CD molecules"", ""Solute carriers"""	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.1034C>T	16.37:g.87872329G>A	ENSP00000261622:p.Thr345Ile					SLC7A5_ENST00000565644.1_Missense_Mutation_p.T79I	p.T345I	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.049)	6	1099	-			345					Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	ENST00000261622.4	37	c.1034C>T	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857987	0.71834	.	.	ENSG00000103257	ENST00000261622	D	0.89681	-2.55	4.49	4.49	0.54785	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.96150	0.8745	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97598	1.0121	10	0.87932	D	0	.	16.5311	0.84359	0.0:0.0:1.0:0.0	.	345	Q01650	LAT1_HUMAN	I	345	ENSP00000261622:T345I	ENSP00000261622:T345I	T	-	2	0	SLC7A5	86429830	1.000000	0.71417	0.991000	0.47740	0.486000	0.33341	9.362000	0.97126	2.215000	0.71742	0.462000	0.41574	ACA		0.587	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		19	64	0	0	0	1	0	19	64				
MAP7D2	256714	broad.mit.edu	37	X	20060693	20060693	+	Missense_Mutation	SNP	A	A	G	rs140590662	byFrequency	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chrX:20060693A>G	ENST00000379651.3	-	7	829	c.811T>C	c.(811-813)Ttc>Ctc	p.F271L	MAP7D2_ENST00000452324.3_Missense_Mutation_p.F219L|MAP7D2_ENST00000379643.5_Missense_Mutation_p.F312L|MAP7D2_ENST00000543767.1_Missense_Mutation_p.F156L|MAP7D2_ENST00000443379.3_Missense_Mutation_p.F226L	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	271					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GGGGACCCGAAGTTCACAACA	0.512													A|||	5	0.0013245	0.0038	0.0	3775	,	,		14959	0.0		0.0	False		,,,				2504	0.0					ENST00000379651.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(811-813)Ttc>Ctc		MAP7 domain containing 2		A	LEU/PHE,LEU/PHE,LEU/PHE,LEU/PHE	16,3819		1,13,1,1618,570	186.0	162.0	170.0		811,655,676,934	1.6	0.0	X	dbSNP_134	170	2,6726		0,2,0,2426,1872	yes	missense,missense,missense,missense	MAP7D2	NM_152780.3,NM_001168467.1,NM_001168466.1,NM_001168465.1	22,22,22,22	1,15,1,4044,2442	GG,GA,G,AA,A		0.0297,0.4172,0.1704	benign,benign,benign,benign	271/733,219/681,226/688,312/774	20060693	18,10545	2203	4300	6503	SO:0001583	missense	256714							g.chrX:20060693A>G	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.811T>C	X.37:g.20060693A>G	ENSP00000368972:p.Phe271Leu					MAP7D2_ENST00000452324.3_Missense_Mutation_p.F219L|MAP7D2_ENST00000443379.3_Missense_Mutation_p.F226L|MAP7D2_ENST00000379643.5_Missense_Mutation_p.F312L|MAP7D2_ENST00000543767.1_Missense_Mutation_p.F156L	p.F271L	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN			7	829	-			271					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	c.811T>C	CCDS14195.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	1.659	-0.511992	0.04200	0.004172	2.97E-4	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000452324	T;T;T;T;T	0.03553	3.89;3.89;3.89;3.89;3.89	5.43	1.6	0.23607	.	0.915045	0.09342	N	0.815306	T	0.01287	0.0042	N	0.00823	-1.155	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.0;0.001	T	0.48647	-0.9017	10	0.25751	T	0.34	0.8419	4.4589	0.11656	0.3738:0.1553:0.4709:0.0	.	226;219;312;271;156	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	L	271;312;156;226;219	ENSP00000368972:F271L;ENSP00000368964:F312L;ENSP00000440691:F156L;ENSP00000388239:F226L;ENSP00000413301:F219L	ENSP00000368964:F312L	F	-	1	0	MAP7D2	19970614	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	0.244000	0.18124	-0.043000	0.13513	-0.287000	0.09952	TTC		0.512	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		6	132	0	0	0	1	0	6	132				
KDSR	2531	broad.mit.edu	37	18	61030014	61030014	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr18:61030014C>T	ENST00000406396.3	-	2	587	c.196G>A	c.(196-198)Gag>Aag	p.E66K	KDSR_ENST00000326575.5_Missense_Mutation_p.E66K	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	66					3-keto-sphinganine metabolic process (GO:0006666)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-dehydrosphinganine reductase activity (GO:0047560)			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						AGCCTTACCTCATTTCGTGCA	0.413																																						ENST00000406396.3																			0				endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						c.(196-198)Gag>Aag		3-ketodihydrosphingosine reductase							99.0	92.0	94.0					18																	61030014		2203	4300	6503	SO:0001583	missense	2531				3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding	g.chr18:61030014C>T		CCDS11982.1	18q21	2011-09-20	2008-02-20	2008-02-20	ENSG00000119537	ENSG00000119537	1.1.1.102	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	4021	protein-coding gene	gene with protein product	"""3-dehydrosphinganine reductase"", ""short chain dehydrogenase/reductase family 35C, member 1"""	136440	"""follicular lymphoma variant translocation 1"""	FVT1		8417785, 15328338, 17420465, 19027726	Standard	NM_002035		Approved	DHSR, SDR35C1	uc010dpw.3	Q06136	OTTHUMG00000132792	ENST00000406396.3:c.196G>A	18.37:g.61030014C>T	ENSP00000385083:p.Glu66Lys					KDSR_ENST00000326575.5_Missense_Mutation_p.E66K	p.E66K	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN			2	587	-			66					B2R5Y1|B4DMX0	Missense_Mutation	SNP	ENST00000406396.3	37	c.196G>A	CCDS11982.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539948	0.85917	.	.	ENSG00000119537	ENST00000406396;ENST00000326575	D;D	0.87966	-2.32;-2.32	5.87	5.87	0.94306	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.88764	0.6525	N	0.20574	0.59	0.80722	D	1	D;B	0.76494	0.999;0.167	D;B	0.81914	0.995;0.074	D	0.85116	0.0966	10	0.20046	T	0.44	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	66;66	B4DMX0;Q06136	.;KDSR_HUMAN	K	66	ENSP00000385083:E66K;ENSP00000312939:E66K	ENSP00000312939:E66K	E	-	1	0	KDSR	59180994	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.308000	0.78929	2.941000	0.99782	0.655000	0.94253	GAG		0.413	KDSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256200.2			18	24	0	0	0	1	0	18	24				
FDXR	2232	broad.mit.edu	37	17	72862613	72862613	+	Silent	SNP	G	G	A	rs7223627	byFrequency	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:72862613G>A	ENST00000293195.5	-	4	426	c.348C>T	c.(346-348)gaC>gaT	p.D116D	FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000442102.2_Silent_p.D159D|FDXR_ENST00000420580.2_Intron|FDXR_ENST00000455107.2_Silent_p.D72D|FDXR_ENST00000544854.1_Silent_p.D64D|FDXR_ENST00000413947.2_Silent_p.D147D|FDXR_ENST00000581530.1_Silent_p.D116D|FDXR_ENST00000583917.1_Silent_p.D117D|FDXR_ENST00000582944.1_Silent_p.D108D	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	116					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	GCACCGTCACGTCCCTGCCCA	0.662													G|||	11	0.00219649	0.0076	0.0014	5008	,	,		18164	0.0		0.0	False		,,,				2504	0.0					ENST00000455107.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(214-216)gaC>gaT		ferredoxin reductase		G	,	31,4375	35.2+/-66.4	0,31,2172	39.0	33.0	35.0		348,348	-1.2	1.0	17	dbSNP_116	35	11,8589	7.1+/-27.0	0,11,4289	no	coding-synonymous,coding-synonymous	FDXR	NM_004110.3,NM_024417.2	,	0,42,6461	AA,AG,GG		0.1279,0.7036,0.3229	,	116/498,116/492	72862613	42,12964	2203	4300	6503	SO:0001819	synonymous_variant	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72862613G>A	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.348C>T	17.37:g.72862613G>A						FDXR_ENST00000582944.1_Silent_p.D108D|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000420580.2_Intron|FDXR_ENST00000413947.2_Silent_p.D147D|FDXR_ENST00000293195.5_Silent_p.D116D|FDXR_ENST00000583917.1_Silent_p.D117D|FDXR_ENST00000442102.2_Silent_p.D159D|FDXR_ENST00000544854.1_Silent_p.D64D|FDXR_ENST00000581530.1_Silent_p.D116D	p.D72D			P22570	ADRO_HUMAN			5	632	-	all_lung(278;0.172)|Lung NSC(278;0.207)		116					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Silent	SNP	ENST00000293195.5	37	c.216C>T	CCDS58593.1																																																																																				0.662	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		3	34	0	0	0	1	0	3	34				
CYP2C8	1558	broad.mit.edu	37	10	96827440	96827440	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr10:96827440T>G	ENST00000371270.3	-	2	271	c.177A>C	c.(175-177)aaA>aaC	p.K59N	CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000539050.1_5'UTR	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	59					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	GACCATAGACTTTTGAGAACT	0.388																																						ENST00000371270.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.(175-177)aaA>aaC		cytochrome P450, family 2, subfamily C, polypeptide 8	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						77.0	72.0	74.0					10																	96827440		2203	4300	6503	SO:0001583	missense	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96827440T>G	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.177A>C	10.37:g.96827440T>G	ENSP00000360317:p.Lys59Asn					CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000539050.1_5'UTR	p.K59N	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	2	271	-		Colorectal(252;0.0397)	59					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.177A>C	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.957454	0.34565	.	.	ENSG00000138115	ENST00000371270	T	0.71934	-0.61	4.86	3.73	0.42828	.	0.222293	0.36555	U	0.002525	T	0.72317	0.3445	M	0.83852	2.665	0.43846	D	0.996435	P	0.34522	0.455	B	0.40134	0.32	T	0.72616	-0.4239	10	0.87932	D	0	.	5.9565	0.19275	0.0:0.2731:0.0:0.7269	.	59	P10632	CP2C8_HUMAN	N	59	ENSP00000360317:K59N	ENSP00000360317:K59N	K	-	3	2	CYP2C8	96817430	0.031000	0.19500	0.009000	0.14445	0.021000	0.10359	0.463000	0.21972	0.903000	0.36546	0.459000	0.35465	AAA		0.388	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		12	16	0	0	0	1	0	12	16				
POU4F2	5458	broad.mit.edu	37	4	147561671	147561671	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr4:147561671C>G	ENST00000281321.3	+	2	1189	c.941C>G	c.(940-942)gCg>gGg	p.A314G	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	314	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					AATATGATCGCGCTCAAACCC	0.602																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(940-942)gCg>gGg		POU class 4 homeobox 2							76.0	79.0	78.0					4																	147561671		2203	4300	6503	SO:0001583	missense	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561671C>G	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.941C>G	4.37:g.147561671C>G	ENSP00000281321:p.Ala314Gly						p.A314G	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			2	1189	+	all_hematologic(180;0.151)		314			POU-specific.		B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.941C>G	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.601147	0.66332	.	.	ENSG00000151615	ENST00000281321	D	0.83755	-1.76	5.37	5.37	0.77165	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.91768	0.7396	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92491	0.6000	10	0.72032	D	0.01	.	19.1135	0.93328	0.0:1.0:0.0:0.0	.	314	Q12837	PO4F2_HUMAN	G	314	ENSP00000281321:A314G	ENSP00000281321:A314G	A	+	2	0	POU4F2	147781121	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.796000	0.85898	2.528000	0.85240	0.561000	0.74099	GCG		0.602	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		18	71	0	0	0	1	0	18	71				
FCGBP	8857	broad.mit.edu	37	19	40421659	40421659	+	Silent	SNP	G	G	A	rs183023275		TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr19:40421659G>A	ENST00000221347.6	-	5	2269	c.2262C>T	c.(2260-2262)tgC>tgT	p.C754C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	754	Cys-rich.|TIL 1.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AAGCAGGGCCGCAGAGCTCAT	0.716													G|||	1	0.000199681	0.0	0.0	5008	,	,		14166	0.0		0.0	False		,,,				2504	0.001					ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(2260-2262)tgC>tgT		Fc fragment of IgG binding protein							4.0	5.0	5.0					19																	40421659		1956	3853	5809	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40421659G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2262C>T	19.37:g.40421659G>A							p.C754C	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		5	2269	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		754			Cys-rich.|TIL 1.		O95784	Silent	SNP	ENST00000221347.6	37	c.2262C>T	CCDS12546.1																																																																																				0.716	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		4	8	0	0	0	1	0	4	8				
RSPH14	27156	broad.mit.edu	37	22	23401783	23401783	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr22:23401783C>A	ENST00000216036.4	-	7	1100	c.904G>T	c.(904-906)Gcc>Tcc	p.A302S		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		302										breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CCCTCGGGGGCCTCTGCCAGC	0.642																																						ENST00000216036.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(904-906)Gcc>Tcc		rhabdoid tumor deletion region gene 1							79.0	80.0	80.0					22																	23401783		2203	4300	6503	SO:0001583	missense	27156						binding	g.chr22:23401783C>A																												ENST00000216036.4:c.904G>T	22.37:g.23401783C>A	ENSP00000216036:p.Ala302Ser						p.A302S	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	7	1100	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		302						Missense_Mutation	SNP	ENST00000216036.4	37	c.904G>T	CCDS13803.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345288	0.61073	.	.	ENSG00000100218	ENST00000216036	T	0.47528	0.84	5.08	4.06	0.47325	Armadillo-like helical (1);Armadillo-type fold (1);	0.735360	0.13496	N	0.383623	T	0.46425	0.1392	L	0.49778	1.585	0.80722	D	1	D	0.54397	0.966	P	0.48738	0.588	T	0.21793	-1.0235	10	0.18276	T	0.48	-22.0375	9.7645	0.40552	0.0:0.9034:0.0:0.0966	.	302	Q9UHP6	RTDR1_HUMAN	S	302	ENSP00000216036:A302S	ENSP00000216036:A302S	A	-	1	0	RTDR1	21731783	1.000000	0.71417	0.985000	0.45067	0.218000	0.24690	1.394000	0.34509	1.286000	0.44565	0.561000	0.74099	GCC		0.642	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			32	136	1	0	7.11191e-15	1	8.07298e-15	32	136				
SLC24A5	283652	broad.mit.edu	37	15	48431347	48431347	+	Silent	SNP	C	C	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr15:48431347C>A	ENST00000341459.3	+	7	1126	c.1053C>A	c.(1051-1053)atC>atA	p.I351I	SLC24A5_ENST00000449382.2_Silent_p.I291I	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	351					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TTACATATATCCTGGTTTGGA	0.303																																						ENST00000341459.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1051-1053)atC>atA		solute carrier family 24 (sodium/potassium/calcium exchanger), member 5							102.0	101.0	102.0					15																	48431347		2197	4290	6487	SO:0001819	synonymous_variant	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48431347C>A	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.1053C>A	15.37:g.48431347C>A						SLC24A5_ENST00000449382.2_Silent_p.I291I	p.I351I	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	7	1126	+		all_lung(180;0.00217)	351					A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Silent	SNP	ENST00000341459.3	37	c.1053C>A	CCDS10128.1																																																																																				0.303	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		17	13	1	0	8.34094e-07	1	8.86884e-07	17	13				
SMTNL2	342527	broad.mit.edu	37	17	4496308	4496308	+	Missense_Mutation	SNP	G	G	A	rs556796500		TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:4496308G>A	ENST00000389313.4	+	3	639	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	SMTNL2_ENST00000338859.4_Missense_Mutation_p.R47Q	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	191										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		CTCTCCTTGCGGCTGCCCCAC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		15671	0.001		0.0	False		,,,				2504	0.0					ENST00000389313.4																			0				breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13						c.(571-573)cGg>cAg		smoothelin-like 2							59.0	60.0	59.0					17																	4496308		2203	4300	6503	SO:0001583	missense	342527							g.chr17:4496308G>A	AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938	ENST00000389313.4:c.572G>A	17.37:g.4496308G>A	ENSP00000373964:p.Arg191Gln					SMTNL2_ENST00000338859.4_Missense_Mutation_p.R47Q	p.R191Q	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN		READ - Rectum adenocarcinoma(115;0.0325)	3	639	+			191					Q6ZVK6	Missense_Mutation	SNP	ENST00000389313.4	37	c.572G>A	CCDS45583.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056013	0.36277	.	.	ENSG00000188176	ENST00000338859;ENST00000389313	T;T	0.81330	-1.46;-1.48	5.36	-0.161	0.13371	.	.	.	.	.	T	0.69842	0.3156	L	0.42245	1.32	0.24831	N	0.992525	B	0.13594	0.008	B	0.06405	0.002	T	0.53599	-0.8416	9	0.23891	T	0.37	-14.6887	8.85	0.35194	0.4124:0.0:0.5876:0.0	.	191	Q2TAL5	SMTL2_HUMAN	Q	47;191	ENSP00000345143:R47Q;ENSP00000373964:R191Q	ENSP00000345143:R47Q	R	+	2	0	SMTNL2	4443057	1.000000	0.71417	0.997000	0.53966	0.789000	0.44602	0.591000	0.23969	0.088000	0.17205	-0.143000	0.13931	CGG		0.622	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439129.1	NM_198501		14	43	0	0	0	1	0	14	43				
SMARCD2	6603	broad.mit.edu	37	17	61914805	61914805	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:61914805G>A	ENST00000448276.2	-	2	662	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	SMARCD2_ENST00000225742.9_Missense_Mutation_p.R58W|RN7SL805P_ENST00000581353.1_RNA|SMARCD2_ENST00000323347.10_Missense_Mutation_p.R85W	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	133					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						TCTTACCCCCGGCGCTGGGCA	0.582																																						ENST00000448276.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						c.(397-399)Cgg>Tgg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2							52.0	57.0	55.0					17																	61914805		1944	4158	6102	SO:0001583	missense	6603				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity	g.chr17:61914805G>A	U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60B"", ""Swp73-like protein"", ""chromatin remodeling complex BAF60B subunit"", ""SWI/SNF complex 60 kDa subunit B"""	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.397C>T	17.37:g.61914805G>A	ENSP00000392617:p.Arg133Trp					SMARCD2_ENST00000225742.9_Missense_Mutation_p.R58W|SMARCD2_ENST00000323347.10_Missense_Mutation_p.R85W	p.R133W	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN			2	662	-			133					A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Missense_Mutation	SNP	ENST00000448276.2	37	c.397C>T	CCDS45756.1	.	.	.	.	.	.	.	.	.	.	.	14.29	2.489983	0.44249	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T;T	0.58652	0.74;0.32;0.76	5.27	5.27	0.74061	.	0.168147	0.49916	D	0.000140	T	0.66127	0.2758	L	0.57536	1.79	0.58432	D	0.999999	D;D;D	0.71674	0.998;0.995;0.998	P;P;P	0.57468	0.649;0.723;0.821	T	0.68599	-0.5366	10	0.87932	D	0	.	11.3171	0.49399	0.0:0.0:0.8187:0.1813	.	85;96;133	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	W	133;75;96;85	ENSP00000392617:R133W;ENSP00000225742:R75W;ENSP00000318451:R85W	ENSP00000225742:R75W	R	-	1	2	SMARCD2	59268537	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.121000	0.50438	2.749000	0.94314	0.491000	0.48974	CGG		0.582	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444544.1	NM_001098426		57	67	0	0	0	1	0	57	67				
SYNE1	23345	broad.mit.edu	37	6	152646275	152646275	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr6:152646275C>G	ENST00000367255.5	-	81	16202	c.15601G>C	c.(15601-15603)Gac>Cac	p.D5201H	SYNE1_ENST00000341594.5_Missense_Mutation_p.D4894H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D5201H|SYNE1_ENST00000423061.1_Missense_Mutation_p.D5130H|SYNE1_ENST00000448038.1_Missense_Mutation_p.D5130H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5201					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTCCTGGTCCTGGGCCACA	0.537										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(15601-15603)Gac>Cac		spectrin repeat containing, nuclear envelope 1							186.0	157.0	167.0					6																	152646275		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152646275C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15601G>C	6.37:g.152646275C>G	ENSP00000356224:p.Asp5201His	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.D5130H|SYNE1_ENST00000448038.1_Missense_Mutation_p.D5130H|SYNE1_ENST00000341594.5_Missense_Mutation_p.D4894H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D5201H	p.D5201H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	81	16202	-		Ovarian(120;0.0955)	5201					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.15601G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129915	0.77549	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.3	5.81	5.81	0.92471	.	0.095023	0.45867	D	0.000335	T	0.48447	0.1500	M	0.63428	1.95	0.80722	D	1	D;P;P;P	0.59357	0.985;0.943;0.943;0.928	P;P;P;P	0.58970	0.849;0.547;0.547;0.662	T	0.36817	-0.9732	10	0.49607	T	0.09	.	20.0912	0.97820	0.0:1.0:0.0:0.0	.	5201;5201;5201;5130	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	H	5201;5130;5201;5130;4894	ENSP00000356224:D5201H;ENSP00000396024:D5130H;ENSP00000265368:D5201H;ENSP00000390975:D5130H;ENSP00000341887:D4894H	ENSP00000265368:D5201H	D	-	1	0	SYNE1	152687968	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.442000	0.80503	2.746000	0.94184	0.591000	0.81541	GAC		0.537	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		78	79	0	0	0	1	0	78	79				
KRT16	3868	broad.mit.edu	37	17	39767667	39767667	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:39767667C>G	ENST00000301653.4	-	3	765	c.701G>C	c.(700-702)aGg>aCg	p.R234T		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	234	Coil 1B.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CAGGTCAGTCCTGGCCAGGGT	0.632																																						ENST00000301653.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(700-702)aGg>aCg		keratin 16							74.0	72.0	73.0					17																	39767667		2203	4300	6503	SO:0001583	missense	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39767667C>G	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.701G>C	17.37:g.39767667C>G	ENSP00000301653:p.Arg234Thr						p.R234T	NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN			3	765	-		Breast(137;0.000307)	234			Coil 1B.|Rod.		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	c.701G>C	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019393	0.75275	.	.	ENSG00000186832	ENST00000301653	D	0.91577	-2.87	4.63	4.63	0.57726	Filament (1);	0.000000	0.56097	D	0.000036	D	0.95004	0.8383	M	0.84326	2.69	0.44282	D	0.997147	D	0.57257	0.979	D	0.72625	0.978	D	0.95067	0.8201	10	0.62326	D	0.03	.	13.4925	0.61405	0.0:0.9218:0.0:0.0782	.	234	P08779	K1C16_HUMAN	T	234	ENSP00000301653:R234T	ENSP00000301653:R234T	R	-	2	0	KRT16	37021193	0.934000	0.31675	0.933000	0.37362	0.964000	0.63967	2.043000	0.41231	2.556000	0.86216	0.561000	0.74099	AGG		0.632	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		44	68	0	0	0	1	0	44	68				
PLEKHA6	22874	broad.mit.edu	37	1	204236639	204236639	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr1:204236639A>G	ENST00000272203.3	-	5	560	c.244T>C	c.(244-246)Ttc>Ctc	p.F82L	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.F82L	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	82	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			ACCAGGACGAACCAGCGCTTG	0.587																																						ENST00000272203.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(244-246)Ttc>Ctc		pleckstrin homology domain containing, family A member 6							115.0	88.0	97.0					1																	204236639		2203	4300	6503	SO:0001583	missense	22874							g.chr1:204236639A>G	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.244T>C	1.37:g.204236639A>G	ENSP00000272203:p.Phe82Leu					PLEKHA6_ENST00000414478.1_Missense_Mutation_p.F82L	p.F82L	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		5	560	-	all_cancers(21;0.0222)|Breast(84;0.179)		82			PH.		A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.244T>C	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.069700	0.76301	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.21191	2.02;2.02	5.51	5.51	0.81932	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.55305	0.1912	M	0.91612	3.225	0.80722	D	1	D	0.55385	0.971	D	0.72625	0.978	T	0.65315	-0.6198	10	0.62326	D	0.03	-25.6828	15.2951	0.73898	1.0:0.0:0.0:0.0	.	82	Q9Y2H5	PKHA6_HUMAN	L	82	ENSP00000272203:F82L;ENSP00000402046:F82L	ENSP00000272203:F82L	F	-	1	0	PLEKHA6	202503262	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.550000	0.82173	2.086000	0.62901	0.448000	0.29417	TTC		0.587	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		17	55	0	0	0	1	0	17	55				
PIBF1	10464	broad.mit.edu	37	13	73396007	73396007	+	Silent	SNP	A	A	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr13:73396007A>G	ENST00000326291.6	+	6	1031	c.693A>G	c.(691-693)aaA>aaG	p.K231K		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	231						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAGATCGAAAAAACTACTCTG	0.348																																						ENST00000326291.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(691-693)aaA>aaG		progesterone immunomodulatory binding factor 1							73.0	68.0	70.0					13																	73396007		2203	4300	6503	SO:0001819	synonymous_variant	10464					centrosome		g.chr13:73396007A>G	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.693A>G	13.37:g.73396007A>G							p.K231K	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	6	1031	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	231					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Silent	SNP	ENST00000326291.6	37	c.693A>G	CCDS31991.1																																																																																				0.348	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		11	7	0	0	0	1	0	11	7				
CCDC136	64753	broad.mit.edu	37	7	128450335	128450335	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr7:128450335G>A	ENST00000297788.4	+	12	2310	c.1943G>A	c.(1942-1944)cGt>cAt	p.R648H	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	648						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GAGCTGCGACGTTTCAAAGAG	0.433																																						ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(1942-1944)cGt>cAt		coiled-coil domain containing 136							68.0	65.0	66.0					7																	128450335		1945	4146	6091	SO:0001583	missense	64753					integral to membrane	protein binding	g.chr7:128450335G>A		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.1943G>A	7.37:g.128450335G>A	ENSP00000297788:p.Arg648His					CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron	p.R648H	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN			12	2310	+			648					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	c.1943G>A	CCDS47704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	8.040|8.040	0.763572|0.763572	0.15914|0.15914	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672|ENST00000494552	T;T|.	0.29655|.	1.56;1.56|.	5.96|5.96	-11.9|-11.9	0.00025|0.00025	.|.	2.356960|.	0.01268|.	N|.	0.009375|.	T|T	0.09423|0.09423	0.0232|0.0232	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.10613|0.10613	-1.0622|-1.0622	10|5	0.23302|.	T|.	0.38|.	6.9503|6.9503	5.7642|5.7642	0.18217|0.18217	0.5825:0.0671:0.2288:0.1215|0.5825:0.0671:0.2288:0.1215	.|.	648;648|.	Q96JN2-2;Q96JN2|.	.;CC136_HUMAN|.	H|I	648;648;648;239|525	ENSP00000297788:R648H;ENSP00000417991:R239H|.	ENSP00000297788:R648H|.	R|V	+|+	2|1	0|0	CCDC136|CCDC136	128237571|128237571	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-2.963000|-2.963000	0.00671|0.00671	-2.302000|-2.302000	0.00657|0.00657	-1.598000|-1.598000	0.00824|0.00824	CGT|GTT		0.433	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		8	46	0	0	0	1	0	8	46				
SLC7A2	6542	broad.mit.edu	37	8	17418005	17418005	+	Silent	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr8:17418005G>A	ENST00000494857.1	+	10	1685	c.1467G>A	c.(1465-1467)caG>caA	p.Q489Q	SLC7A2_ENST00000470360.1_Silent_p.Q528Q|SLC7A2_ENST00000398090.3_Silent_p.Q528Q|SLC7A2_ENST00000522656.1_Silent_p.Q489Q|SLC7A2_ENST00000004531.10_Silent_p.Q529Q	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	489					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CAACACAGCAGTCAGCTTCTC	0.532																																						ENST00000470360.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(1582-1584)caG>caA		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						156.0	140.0	145.0					8																	17418005		2203	4300	6503	SO:0001819	synonymous_variant	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17418005G>A	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1467G>A	8.37:g.17418005G>A						SLC7A2_ENST00000398090.3_Silent_p.Q528Q|SLC7A2_ENST00000494857.1_Silent_p.Q489Q|SLC7A2_ENST00000522656.1_Silent_p.Q489Q|SLC7A2_ENST00000004531.10_Silent_p.Q529Q	p.Q528Q			P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	11	1701	+			489					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Silent	SNP	ENST00000494857.1	37	c.1584G>A	CCDS34852.1																																																																																				0.532	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		59	42	0	0	0	1	0	59	42				
XPO7	23039	broad.mit.edu	37	8	21829421	21829421	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr8:21829421T>G	ENST00000252512.9	+	5	561	c.461T>G	c.(460-462)aTt>aGt	p.I154S	XPO7_ENST00000434536.1_Missense_Mutation_p.I154S|XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000433566.4_Missense_Mutation_p.I155S	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	154					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GGTGTCACAATTTTATCTCAG	0.353																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(460-462)aTt>aGt		exportin 7							198.0	189.0	192.0					8																	21829421		1895	4120	6015	SO:0001583	missense	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21829421T>G	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.461T>G	8.37:g.21829421T>G	ENSP00000252512:p.Ile154Ser					XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000252512.9_Missense_Mutation_p.I154S|XPO7_ENST00000433566.4_Missense_Mutation_p.I155S	p.I154S			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	5	563	+			154					O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.461T>G	CCDS47818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.90|18.90	3.721873|3.721873	0.68959|0.68959	.|.	.|.	ENSG00000130227|ENSG00000130227	ENST00000521303|ENST00000434536;ENST00000252512;ENST00000433566	.|T;T;T	.|0.71341	.|-0.56;-0.56;-0.56	5.64|5.64	5.64|5.64	0.86602|0.86602	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.055778	.|0.64402	.|D	.|0.000001	D|D	0.83640|0.83640	0.5298|0.5298	M|M	0.90082|0.90082	3.085|3.085	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.49696	.|0.843;0.927;0.778	.|B;P;P	.|0.53689	.|0.375;0.732;0.732	D|D	0.87350|0.87350	0.2337|0.2337	5|10	.|0.87932	.|D	.|0	-13.4666|-13.4666	15.8025|15.8025	0.78463|0.78463	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|155;154;154	.|E7ESC6;E9PEN8;Q9UIA9	.|.;.;XPO7_HUMAN	V|S	159|154;154;155	.|ENSP00000404853:I154S;ENSP00000252512:I154S;ENSP00000410249:I155S	.|ENSP00000252512:I154S	F|I	+|+	1|2	0|0	XPO7|XPO7	21885367|21885367	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.939000|7.939000	0.87685|0.87685	2.276000|2.276000	0.75962|0.75962	0.533000|0.533000	0.62120|0.62120	TTT|ATT		0.353	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		42	30	0	0	0	1	0	42	30				
METTL6	131965	broad.mit.edu	37	3	15467811	15467811	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:15467811G>C	ENST00000443029.1	-	2	448	c.208C>G	c.(208-210)Cta>Gta	p.L70V	METTL6_ENST00000450816.2_Missense_Mutation_p.L70V|METTL6_ENST00000383789.5_Missense_Mutation_p.L70V|METTL6_ENST00000383790.3_Missense_Mutation_p.L70V|EAF1_ENST00000396842.2_5'Flank|EAF1_ENST00000432764.2_5'Flank			Q8TCB7	METL6_HUMAN	methyltransferase like 6	70							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						CATGATCTTAGCTCCTCAAAC	0.398																																						ENST00000443029.1																			0				endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						c.(208-210)Cta>Gta		methyltransferase like 6							165.0	151.0	156.0					3																	15467811		1887	4119	6006	SO:0001583	missense	131965						methyltransferase activity	g.chr3:15467811G>C	AK057791	CCDS43056.1	3p25.1	2005-11-02			ENSG00000206562	ENSG00000206562			28343	protein-coding gene	gene with protein product						12477932	Standard	NM_152396		Approved	MGC24132	uc003bzs.1	Q8TCB7	OTTHUMG00000156431	ENST00000443029.1:c.208C>G	3.37:g.15467811G>C	ENSP00000407613:p.Leu70Val					METTL6_ENST00000450816.2_Missense_Mutation_p.L70V|METTL6_ENST00000383790.3_Missense_Mutation_p.L70V|METTL6_ENST00000383789.5_Missense_Mutation_p.L70V	p.L70V			Q8TCB7	METL6_HUMAN			2	448	-			70					Q96LU4	Missense_Mutation	SNP	ENST00000443029.1	37	c.208C>G	CCDS43056.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168843	0.57584	.	.	ENSG00000206562	ENST00000383790;ENST00000450816;ENST00000383789	T;T;T	0.75367	-0.93;-0.93;-0.93	5.4	3.59	0.41128	.	0.000000	0.85682	D	0.000000	D	0.85340	0.5674	M	0.84948	2.725	0.53688	D	0.999978	D;P;P	0.65815	0.995;0.918;0.866	D;P;P	0.68765	0.96;0.835;0.566	D	0.85690	0.1306	10	0.87932	D	0	-9.2044	10.6555	0.45673	0.2181:0.0:0.7819:0.0	.	70;70;70	B4DDX3;Q8TCB7-2;Q8TCB7	.;.;METL6_HUMAN	V	70	ENSP00000373300:L70V;ENSP00000410726:L70V;ENSP00000373299:L70V	ENSP00000373299:L70V	L	-	1	2	METTL6	15442815	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	2.740000	0.47418	0.625000	0.30304	0.555000	0.69702	CTA		0.398	METTL6-007	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346373.1	NM_152396		9	51	0	0	0	1	0	9	51				
OAS2	4939	broad.mit.edu	37	12	113440906	113440906	+	Splice_Site	SNP	G	G	A	rs150642424		TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:113440906G>A	ENST00000342315.4	+	6	1392	c.1178G>A	c.(1177-1179)cGg>cAg	p.R393Q	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Splice_Site_p.R393Q	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	393	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CAGATTGTCCGGGTGAGCACT	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		22025	0.0		0.001	False		,,,				2504	0.0				Pancreas(199;709 2232 18410 33584 35052)	ENST00000392583.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.e6+1		2'-5'-oligoadenylate synthetase 2, 69/71kDa		G	GLN/ARG,GLN/ARG	1,4405		0,1,2202	180.0	176.0	177.0		1178,1178	-0.1	0.3	12	dbSNP_134	177	15,8585		0,15,4285	yes	missense-near-splice,missense-near-splice	OAS2	NM_002535.2,NM_016817.2	43,43	0,16,6487	AA,AG,GG		0.1744,0.0227,0.123	benign,benign	393/688,393/720	113440906	16,12990	2203	4300	6503	SO:0001630	splice_region_variant	0				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113440906G>A	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1179+1G>A	12.37:g.113440906G>A						RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Splice_Site_p.R393_splice	p.R393_splice	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN			6	1385	+			393			OAS domain 2.		A8K9T1|Q6PJ33|Q86XX8	Splice_Site	SNP	ENST00000342315.4	37	c.1179_splice	CCDS31906.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	12.10	1.836651	0.32421	2.27E-4	0.001744	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.06849	3.25;3.25	3.91	-0.0514	0.13827	2-5-oligoadenylate synthetase, N-terminal (1);Nucleotidyl transferase domain (1);	0.500311	0.16272	N	0.221728	T	0.02083	0.0065	N	0.00583	-1.355	0.34012	D	0.651614	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.30822	-0.9965	10	0.51188	T	0.08	-8.6742	6.2483	0.20832	0.6504:0.0:0.3496:0.0	.	393;393	P29728;P29728-2	OAS2_HUMAN;.	Q	393	ENSP00000342278:R393Q;ENSP00000376362:R393Q	ENSP00000342278:R393Q	R	+	2	0	OAS2	111925289	0.914000	0.31030	0.272000	0.24630	0.014000	0.08584	0.827000	0.27421	-0.069000	0.12931	-0.238000	0.12139	CGG		0.453	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1		Missense_Mutation	12	243	0	0	0	1	0	12	243				
NOS1	4842	broad.mit.edu	37	12	117685282	117685282	+	Silent	SNP	G	G	A	rs375782081		TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:117685282G>A	ENST00000338101.4	-	18	2800	c.2796C>T	c.(2794-2796)tgC>tgT	p.C932C	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.C898C			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GTCCGAAGGCGCAAAAGTGAG	0.557																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(2692-2694)tgC>tgT		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)	A	,,,	0,3952		0,0,1976	79.0	78.0	78.0		2694,1686,1686,2796	-3.1	1.0	12		78	1,8309		0,1,4154	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NOS1	NM_000620.4,NM_001204213.1,NM_001204214.1,NM_001204218.1	,,,	0,1,6130	AA,AG,GG		0.012,0.0,0.0082	,,,	898/1435,562/1099,562/1099,932/1469	117685282	1,12261	1976	4155	6131	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117685282G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2796C>T	12.37:g.117685282G>A						NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.C932C	p.C898C	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	18	3379	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		898			Flavodoxin-like.			Silent	SNP	ENST00000338101.4	37	c.2694C>T	CCDS55890.1																																																																																				0.557	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			12	67	0	0	0	1	0	12	67				
KIF19	124602	broad.mit.edu	37	17	72340364	72340364	+	Silent	SNP	C	C	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:72340364C>A	ENST00000389916.4	+	6	597	c.459C>A	c.(457-459)atC>atA	p.I153I		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	153	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCCGTCAGATCTACAATGAGA	0.627																																						ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(457-459)atC>atA		kinesin family member 19							44.0	44.0	44.0					17																	72340364		2203	4300	6503	SO:0001819	synonymous_variant	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72340364C>A	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.459C>A	17.37:g.72340364C>A							p.I153I	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			6	597	+			153			Kinesin-motor.		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	37	c.459C>A	CCDS32718.2																																																																																				0.627	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		32	39	1	0	1.36161e-19	1	1.58855e-19	32	39				
GUCY2F	2986	broad.mit.edu	37	X	108719047	108719047	+	Missense_Mutation	SNP	G	G	C	rs34228145	byFrequency	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chrX:108719047G>C	ENST00000218006.2	-	2	410	c.119C>G	c.(118-120)tCt>tGt	p.S40C		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	40			S -> C (in dbSNP:rs34228145). {ECO:0000269|PubMed:17344846}.		intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GGACATGACAGACAGAAGGCA	0.562											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	30	0.00794702	0.0197	0.0043	3775	,	,		13267	0.0		0.001	False		,,,				2504	0.0					ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(118-120)tCt>tGt		guanylate cyclase 2F, retinal		G	CYS/SER	82,3753		0,65,17,1567,554	91.0	77.0	82.0		119	0.7	0.0	X	dbSNP_126	82	0,6728		0,0,0,2428,1872	yes	missense	GUCY2F	NM_001522.2	112	0,65,17,3995,2426	CC,CG,C,GG,G		0.0,2.1382,0.7763	benign	40/1109	108719047	82,10481	2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108719047G>C	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.119C>G	X.37:g.108719047G>C	ENSP00000218006:p.Ser40Cys		OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1414		p.S40C	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			2	410	-			40		S -> C (in dbSNP:rs34228145).			Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.119C>G	CCDS14545.1	9	0.0054249547920434	6	0.012295081967213115	0	0.0	0	0.0	0	0.0	G	0.793	-0.758065	0.03019	0.021382	0.0	ENSG00000101890	ENST00000218006	T	0.79141	-1.24	4.42	0.664	0.17890	.	0.722572	0.13809	N	0.361230	T	0.40546	0.1121	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.31475	-0.9942	10	0.38643	T	0.18	.	10.2198	0.43190	0.3462:0.0:0.6538:0.0	rs34228145	40	P51841	GUC2F_HUMAN	C	40	ENSP00000218006:S40C	ENSP00000218006:S40C	S	-	2	0	GUCY2F	108605703	0.006000	0.16342	0.020000	0.16555	0.007000	0.05969	0.243000	0.18106	-0.228000	0.09869	-0.905000	0.02835	TCT		0.562	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		4	62	0	0	0	1	0	4	62				
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	byFrequency	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:45128742T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TAATGATTTTTATTATACTTT	0.328													g|||	2160	0.43131	0.3593	0.4986	5008	,	,		16551	0.3482		0.4861	False		,,,				2504	0.5102					ENST00000575173.1																			0																																																			0							g.chr17:45128742T>G																													17.37:g.45128742T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.328	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			3	50	0	0	0	1	0	3	50				
TUBA3C	7278	broad.mit.edu	37	13	19748102	19748102	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr13:19748102G>T	ENST00000400113.3	-	5	1358	c.1254C>A	c.(1252-1254)ttC>ttA	p.F418L		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	418					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GGGCCTCAGAGAACTCCCCCT	0.587																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(1252-1254)ttC>ttA		tubulin, alpha 3c							144.0	140.0	141.0					13																	19748102		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19748102G>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1254C>A	13.37:g.19748102G>T	ENSP00000382982:p.Phe418Leu						p.F418L	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	5	1358	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	418					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.1254C>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	12.28	1.890675	0.33348	.	.	ENSG00000198033	ENST00000400113	D	0.86694	-2.16	1.22	1.22	0.21188	.	0.000000	0.49916	U	0.000124	D	0.88676	0.6501	.	.	.	0.44627	D	0.9976	.	.	.	.	.	.	D	0.87827	0.2642	7	0.87932	D	0	.	8.3643	0.32378	0.0:0.0:1.0:0.0	.	.	.	.	L	418	ENSP00000382982:F418L	ENSP00000382982:F418L	F	-	3	2	TUBA3C	18646102	1.000000	0.71417	0.992000	0.48379	0.415000	0.31203	4.209000	0.58493	0.982000	0.38575	0.194000	0.17425	TTC		0.587	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		16	211	1	0	1.15088e-07	1	1.2555e-07	16	211				
SPOP	8405	broad.mit.edu	37	17	47696425	47696425	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:47696425A>C	ENST00000393328.2	-	6	763	c.398T>G	c.(397-399)tTc>tGc	p.F133C	SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000503676.1_Missense_Mutation_p.F133C|SPOP_ENST00000393331.3_Missense_Mutation_p.F133C|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000504102.1_Missense_Mutation_p.F133C	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133C(3)|p.F133S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTCTTGAATCCCCAGTC	0.448										Prostate(2;0.17)																												ENST00000393331.3																			5	Substitution - Missense(5)	p.F133C(3)|p.F133S(2)	prostate(5)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)tTc>tGc		speckle-type POZ protein							119.0	120.0	120.0					17																	47696425		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696425A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.398T>G	17.37:g.47696425A>C	ENSP00000377001:p.Phe133Cys	Prostate(2;0.17)				SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000503676.1_Missense_Mutation_p.F133C|SPOP_ENST00000393328.2_Missense_Mutation_p.F133C|SPOP_ENST00000504102.1_Missense_Mutation_p.F133C	p.F133C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	868	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.398T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.055575	0.75960	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67321	-0.5700	10	0.54805	T	0.06	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	C	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133C;ENSP00000377004:F133C;ENSP00000240327:F133C;ENSP00000425905:F133C;ENSP00000420908:F133C;ENSP00000426986:F133C;ENSP00000420960:F133C;ENSP00000426262:F133C;ENSP00000424119:F133C	ENSP00000240327:F133C	F	-	2	0	SPOP	45051424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		48	84	0	0	0	1	0	48	84				
SCN10A	6336	broad.mit.edu	37	3	38755487	38755487	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:38755487G>A	ENST00000449082.2	-	21	3765	c.3766C>T	c.(3766-3768)Cgg>Tgg	p.R1256W		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1256					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R1256W(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CGCAGTGGCCGCAGAGCGCGA	0.527																																						ENST00000449082.2																			1	Substitution - Missense(1)	p.R1256W(1)	prostate(1)	NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3766-3768)Cgg>Tgg		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						82.0	84.0	84.0					3																	38755487		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38755487G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3766C>T	3.37:g.38755487G>A	ENSP00000390600:p.Arg1256Trp						p.R1256W	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	21	3765	-			1256					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.3766C>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986336	0.53934	.	.	ENSG00000185313	ENST00000449082	D	0.99652	-6.3	4.23	0.849	0.18972	Ion transport (1);	0.067156	0.56097	D	0.000023	D	0.99825	0.9922	H	0.99988	5.28	0.44816	D	0.997827	D	0.76494	0.999	D	0.63283	0.913	D	0.97155	0.9834	10	0.87932	D	0	.	11.893	0.52641	0.0:0.0:0.2746:0.7254	.	1256	Q9Y5Y9	SCNAA_HUMAN	W	1256	ENSP00000390600:R1256W	ENSP00000390600:R1256W	R	-	1	2	SCN10A	38730491	1.000000	0.71417	0.998000	0.56505	0.668000	0.39293	0.863000	0.27913	0.352000	0.24053	0.411000	0.27672	CGG		0.527	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		60	88	0	0	0	1	0	60	88				
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933		TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr21:11058353T>C	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)		GAAATCTCTTTATAAAACCTT	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							20.0	18.0	19.0					21																	11058353		692	1589	2281			85319							g.chr21:11058353T>C	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.11058353T>C												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	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	80	0	0	0	1	0	5	80				
DACT3	147906	broad.mit.edu	37	19	47151969	47151969	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr19:47151969C>T	ENST00000391916.2	-	4	1733	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K	DACT3_ENST00000300875.4_Missense_Mutation_p.E329K	NM_145056.2	NP_659493.2	Q96B18	DACT3_HUMAN	dishevelled-binding antagonist of beta-catenin 3	554					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		GATTCTCCCTCGCTGGCGCTC	0.746																																						ENST00000391916.2																			0				lung(1)	1						c.(1660-1662)Gag>Aag		dishevelled-binding antagonist of beta-catenin 3							13.0	18.0	16.0					19																	47151969		2184	4258	6442	SO:0001583	missense	147906							g.chr19:47151969C>T		CCDS12688.2, CCDS74402.1	19q13.32	2013-05-15	2013-05-15	2006-09-25	ENSG00000197380	ENSG00000197380			30745	protein-coding gene	gene with protein product		611112	"""arginine rich region 1"", ""dapper, antagonist of beta-catenin, homolog 3 (Xenopus laevis)"""	RRR1		16881060	Standard	NM_145056		Approved	MGC15476, DAPPER3	uc010ekq.3	Q96B18	OTTHUMG00000153070	ENST00000391916.2:c.1660G>A	19.37:g.47151969C>T	ENSP00000375783:p.Glu554Lys					DACT3_ENST00000300875.4_Missense_Mutation_p.E329K	p.E554K	NM_145056.2	NP_659493.2	Q96B18	DACT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)	4	1733	-		Ovarian(192;0.0798)|all_neural(266;0.107)	554						Missense_Mutation	SNP	ENST00000391916.2	37	c.1660G>A	CCDS12688.2	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610660	0.66558	.	.	ENSG00000197380	ENST00000391916;ENST00000300875	T;T	0.53857	0.6;0.6	2.99	2.99	0.34606	.	0.181220	0.18159	U	0.149836	T	0.60996	0.2312	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	P	0.56612	0.802	T	0.65957	-0.6042	10	0.87932	D	0	-12.6237	11.7444	0.51811	0.0:1.0:0.0:0.0	.	554	Q96B18	DACT3_HUMAN	K	554;329	ENSP00000375783:E554K;ENSP00000300875:E329K	ENSP00000300875:E329K	E	-	1	0	DACT3	51843809	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	6.654000	0.74387	1.646000	0.50622	0.289000	0.19496	GAG		0.746	DACT3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000334090.1	NM_145056		5	31	0	0	0	1	0	5	31				
LRRFIP1	9208	broad.mit.edu	37	2	238668784	238668784	+	Silent	SNP	A	A	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr2:238668784A>G	ENST00000392000.4	+	10	942	c.825A>G	c.(823-825)caA>caG	p.Q275Q	LRRFIP1_ENST00000289175.6_Silent_p.Q219Q|LRRFIP1_ENST00000308482.9_Silent_p.Q465Q|LRRFIP1_ENST00000244815.5_Silent_p.Q251Q	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	275			Q -> R (in dbSNP:rs3213869).		innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		TTGGATACCAAGGTCCTACCA	0.433																																						ENST00000244815.5																			0				NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(751-753)caA>caG		leucine rich repeat (in FLII) interacting protein 1							112.0	106.0	108.0					2																	238668784		2203	4300	6503	SO:0001819	synonymous_variant	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238668784A>G	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.825A>G	2.37:g.238668784A>G						LRRFIP1_ENST00000289175.6_Silent_p.Q219Q|LRRFIP1_ENST00000392000.4_Silent_p.Q275Q|LRRFIP1_ENST00000308482.9_Silent_p.Q465Q	p.Q251Q	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	9	993	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	275					E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Silent	SNP	ENST00000392000.4	37	c.753A>G	CCDS46552.1																																																																																				0.433	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		20	45	0	0	0	1	0	20	45				
GGT5	2687	broad.mit.edu	37	22	24629908	24629908	+	Missense_Mutation	SNP	C	C	T	rs200655605		TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr22:24629908C>T	ENST00000327365.4	-	2	654	c.238G>A	c.(238-240)Gtc>Atc	p.V80I	GGT5_ENST00000398292.3_Missense_Mutation_p.V80I|GGT5_ENST00000263112.7_Missense_Mutation_p.V80I|GGT5_ENST00000418439.2_Intron	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	80					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GGGTTGACGACGCTGGTGCAG	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19426	0.0		0.0	False		,,,				2504	0.0					ENST00000327365.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						c.(238-240)Gtc>Atc		gamma-glutamyltransferase 5		C	ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	102.0	84.0	90.0		238,238,238	4.9	0.0	22		90	0,8600		0,0,4300	no	missense,missense,missense	GGT5	NM_001099781.1,NM_001099782.1,NM_004121.2	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	80/588,80/555,80/587	24629908	1,13005	2203	4300	6503	SO:0001583	missense	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24629908C>T	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.238G>A	22.37:g.24629908C>T	ENSP00000330080:p.Val80Ile					GGT5_ENST00000418439.2_Intron|GGT5_ENST00000263112.7_Missense_Mutation_p.V80I|GGT5_ENST00000398292.3_Missense_Mutation_p.V80I	p.V80I	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN			2	654	-			80					Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	c.238G>A	CCDS13825.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.31	2.796734	0.50208	2.27E-4	0.0	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000398292	T;T;T	0.14640	2.49;2.49;2.49	4.87	4.87	0.63330	.	0.232398	0.35262	N	0.003340	T	0.33352	0.0860	M	0.64170	1.965	0.54753	D	0.999981	P;D;D;D	0.65815	0.888;0.991;0.995;0.991	B;P;D;P	0.64595	0.394;0.844;0.927;0.844	T	0.03139	-1.1068	10	0.66056	D	0.02	-36.316	15.9174	0.79531	0.0:1.0:0.0:0.0	.	80;80;80;80	P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;GGT5_HUMAN	I	80	ENSP00000330080:V80I;ENSP00000263112:V80I;ENSP00000381340:V80I	ENSP00000263112:V80I	V	-	1	0	GGT5	22959908	0.008000	0.16893	0.047000	0.18901	0.338000	0.28826	0.153000	0.16323	2.451000	0.82905	0.306000	0.20318	GTC		0.622	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		39	30	0	0	0	1	0	39	30				
PALB2	79728	broad.mit.edu	37	16	23640966	23640966	+	Missense_Mutation	SNP	C	C	T	rs587778587|rs587782697		TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr16:23640966C>T	ENST00000261584.4	-	5	2661	c.2509G>A	c.(2509-2511)Gaa>Aaa	p.E837K		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	837	Required for interaction with POLH and POLH DNA synthesis stimulation.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TGTACCTGTTCGACGGAATGT	0.448			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000261584.4			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	"""F, N, Mis"""	partner and localizer of BRCA2			"""L, O, E"""		"""Wilms tumor, medulloblastoma, AML ,breast"""			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(2509-2511)Gaa>Aaa	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2							72.0	75.0	74.0					16																	23640966		2197	4300	6497	SO:0001583	missense	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23640966C>T		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.2509G>A	16.37:g.23640966C>T	ENSP00000261584:p.Glu837Lys						p.E837K	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	5	2661	-			837					A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.2509G>A	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	C	5.354	0.250660	0.10130	.	.	ENSG00000083093	ENST00000261584	T	0.15834	2.39	5.45	2.43	0.29744	.	0.161391	0.43919	D	0.000512	T	0.12774	0.0310	L	0.56769	1.78	0.31446	N	0.671316	P	0.49307	0.922	B	0.34590	0.186	T	0.18493	-1.0335	10	0.45353	T	0.12	-20.9525	7.2199	0.25981	0.0:0.5781:0.335:0.0869	.	837	Q86YC2	PALB2_HUMAN	K	837	ENSP00000261584:E837K	ENSP00000261584:E837K	E	-	1	0	PALB2	23548467	0.137000	0.22531	0.672000	0.29872	0.040000	0.13550	0.349000	0.20055	0.922000	0.37019	-0.150000	0.13652	GAA		0.448	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		7	36	0	0	0	1	0	7	36				
OR4A15	81328	broad.mit.edu	37	11	55135991	55135991	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr11:55135991C>A	ENST00000314706.3	+	1	632	c.632C>A	c.(631-633)cCc>cAc	p.P211H		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GATTTGTATCCCTTATTGAAA	0.413																																						ENST00000314706.3																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(631-633)cCc>cAc		olfactory receptor, family 4, subfamily A, member 15							138.0	128.0	131.0					11																	55135991		2201	4293	6494	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135991C>A	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.632C>A	11.37:g.55135991C>A	ENSP00000325065:p.Pro211His						p.P211H	NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN			1	632	+			211					Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.632C>A	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	-	8.983	0.975818	0.18736	.	.	ENSG00000181958	ENST00000314706	T	0.00211	8.54	3.65	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000134	T	0.00695	0.0023	H	0.94462	3.54	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.21999	-1.0229	10	0.87932	D	0	.	8.7222	0.34447	0.0:0.8837:0.0:0.1163	.	211	Q8NGL6	O4A15_HUMAN	H	211	ENSP00000325065:P211H	ENSP00000325065:P211H	P	+	2	0	OR4A15	54892567	0.000000	0.05858	0.007000	0.13788	0.048000	0.14542	0.086000	0.14935	0.742000	0.32697	0.492000	0.49549	CCC		0.413	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		16	85	1	0	4.7546e-09	1	5.32516e-09	16	85				
VPS39	23339	broad.mit.edu	37	15	42456581	42456581	+	Silent	SNP	C	C	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr15:42456581C>T	ENST00000348544.4	-	20	2033	c.2034G>A	c.(2032-2034)cgG>cgA	p.R678R	VPS39_ENST00000318006.5_Silent_p.R667R			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	678					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CACAGATGAGCCGGCCTGGAT	0.507																																						ENST00000318006.5																			0				breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1999-2001)cgG>cgA		vacuolar protein sorting 39 homolog (S. cerevisiae)							73.0	79.0	77.0					15																	42456581		2203	4299	6502	SO:0001819	synonymous_variant	23339				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	g.chr15:42456581C>T	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.2034G>A	15.37:g.42456581C>T						VPS39_ENST00000348544.4_Silent_p.R678R	p.R667R	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	19	2163	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	678					O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	ENST00000348544.4	37	c.2001G>A	CCDS10083.1																																																																																				0.507	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		6	40	0	0	0	1	0	6	40				
SACS	26278	broad.mit.edu	37	13	23912565	23912565	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr13:23912565G>A	ENST00000382292.3	-	9	5723	c.5450C>T	c.(5449-5451)aCg>aTg	p.T1817M	SACS_ENST00000402364.1_Missense_Mutation_p.T1067M|SACS_ENST00000382298.3_Missense_Mutation_p.T1817M			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1817					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAGAAGCCACGTGGTACACTC	0.488																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(5449-5451)aCg>aTg		spastic ataxia of Charlevoix-Saguenay (sacsin)							129.0	126.0	127.0					13																	23912565		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23912565G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5450C>T	13.37:g.23912565G>A	ENSP00000371729:p.Thr1817Met					SACS_ENST00000382292.3_Missense_Mutation_p.T1817M|SACS_ENST00000402364.1_Missense_Mutation_p.T1067M	p.T1817M	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	6038	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1817					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.5450C>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932816	0.73442	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87809	-2.14;-2.3;-2.14	5.75	4.91	0.64330	.	0.113256	0.64402	D	0.000009	D	0.82518	0.5054	L	0.51422	1.61	0.29633	N	0.845311	P	0.34562	0.457	B	0.24269	0.052	T	0.80324	-0.1430	10	0.66056	D	0.02	.	15.0511	0.71872	0.0683:0.0:0.9317:0.0	.	1817	Q9NZJ4	SACS_HUMAN	M	1817;1067;1817	ENSP00000371729:T1817M;ENSP00000385844:T1067M;ENSP00000371735:T1817M	ENSP00000371729:T1817M	T	-	2	0	SACS	22810565	1.000000	0.71417	0.959000	0.39883	0.967000	0.64934	4.915000	0.63355	1.435000	0.47434	0.591000	0.81541	ACG		0.488	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		31	106	0	0	0	1	0	31	106				
EPDR1	54749	broad.mit.edu	37	7	37960746	37960746	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr7:37960746T>A	ENST00000199448.4	+	1	584	c.205T>A	c.(205-207)Tac>Aac	p.Y69N	EPDR1_ENST00000559325.1_Missense_Mutation_p.Y189N|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000423717.1_Missense_Mutation_p.Y69N	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	69					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CCTGCTCTCCTACGACGGGCT	0.706																																						ENST00000199448.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(205-207)Tac>Aac		ependymin related 1							13.0	14.0	14.0					7																	37960746		2098	4117	6215	SO:0001583	missense	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37960746T>A	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.205T>A	7.37:g.37960746T>A	ENSP00000199448:p.Tyr69Asn					EPDR1_ENST00000423717.1_Missense_Mutation_p.Y69N|EPDR1_ENST00000559325.1_Missense_Mutation_p.Y189N|EPDR1_ENST00000476620.1_Intron	p.Y69N	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN			1	584	+			69					A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	ENST00000199448.4	37	c.205T>A	CCDS5454.2	.	.	.	.	.	.	.	.	.	.	T	22.9	4.350150	0.82132	.	.	ENSG00000086289	ENST00000199448;ENST00000423717	.	.	.	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.76140	0.3946	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.78947	-0.2003	9	0.87932	D	0	-16.4635	10.8623	0.46833	0.0:0.0:0.0:1.0	.	189	A4D1W8	.	N	189;163	.	ENSP00000199448:Y189N	Y	+	1	0	EPDR1	37927271	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.821000	0.62679	1.807000	0.52817	0.260000	0.18958	TAC		0.706	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		14	38	0	0	0	1	0	14	38				
OR5D13	390142	broad.mit.edu	37	11	55541087	55541087	+	Silent	SNP	T	T	C			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr11:55541087T>C	ENST00000361760.1	+	1	174	c.174T>C	c.(172-174)caT>caC	p.H58H		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CAAAACTCCATACAATCATGT	0.403																																						ENST00000361760.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(172-174)caT>caC		olfactory receptor, family 5, subfamily D, member 13							177.0	164.0	169.0					11																	55541087		2200	4296	6496	SO:0001819	synonymous_variant	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541087T>C	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.174T>C	11.37:g.55541087T>C							p.H58H	NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN			1	174	+		all_epithelial(135;0.196)	58					Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	c.174T>C	CCDS31507.1																																																																																				0.403	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		5	92	0	0	0	1	0	5	92				
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Intron	SNP	A	A	G			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr19:54754843A>G	ENST00000316219.5	-	13	1734				LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000450632.1_Missense_Mutation_p.S598P|LILRB5_ENST00000449561.2_Intron|CTD-2337J16.1_ENST00000595133.1_lincRNA	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1792-1794)Tcc>Ccc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							43.0	42.0	42.0					19																	54754843		2191	4270	6461	SO:0001627	intron_variant	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754843A>G	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-47T>C	19.37:g.54754843A>G						LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron	p.S598P			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1869	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		423					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1792T>C	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.237390	0.22711	.	.	ENSG00000105609	ENST00000450632	T	0.00497	6.98	1.74	-0.656	0.11436	.	.	.	.	.	T	0.00328	0.0010	.	.	.	0.09310	N	1	B	0.24576	0.106	B	0.17433	0.018	T	0.45702	-0.9243	8	0.87932	D	0	.	1.6956	0.02861	0.475:0.0:0.2022:0.3228	.	598	C9JMK7	.	P	598	ENSP00000414225:S598P	ENSP00000414225:S598P	S	-	1	0	LILRB5	59446655	0.000000	0.05858	0.043000	0.18650	0.608000	0.37181	-0.873000	0.04214	-0.256000	0.09473	0.332000	0.21555	TCC		0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			5	66	0	0	0	1	0	5	66				
SYT7	9066	broad.mit.edu	37	11	61323611	61323611	+	Missense_Mutation	SNP	G	G	C	rs144496851		TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr11:61323611G>C	ENST00000263846.4	-	2	427	c.100C>G	c.(100-102)Ctc>Gtc	p.L34V	SYT7_ENST00000540677.1_Missense_Mutation_p.L34V|SYT7_ENST00000542836.1_Missense_Mutation_p.L34V|SYT7_ENST00000539008.1_Missense_Mutation_p.L34V|SYT7_ENST00000542670.1_Missense_Mutation_p.L34V|SYT7_ENST00000535826.1_Missense_Mutation_p.L34V	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	34					exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGGCCGCAGAGGACGACAGTG	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		18589	0.0		0.001	False		,,,				2504	0.0					ENST00000263846.4																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(100-102)Ctc>Gtc		synaptotagmin VII		G	VAL/LEU	0,4404		0,0,2202	66.0	53.0	57.0		100	4.1	1.0	11	dbSNP_134	57	1,8597	1.2+/-3.3	0,1,4298	no	missense	SYT7	NM_004200.2	32	0,1,6500	CC,CG,GG		0.0116,0.0,0.0077	benign	34/404	61323611	1,13001	2202	4299	6501	SO:0001583	missense	9066					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr11:61323611G>C	AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.100C>G	11.37:g.61323611G>C	ENSP00000263846:p.Leu34Val					SYT7_ENST00000542670.1_Missense_Mutation_p.L34V|SYT7_ENST00000540677.1_Missense_Mutation_p.L34V|SYT7_ENST00000535826.1_Missense_Mutation_p.L34V|SYT7_ENST00000539008.1_Missense_Mutation_p.L34V|SYT7_ENST00000542836.1_Missense_Mutation_p.L34V	p.L34V	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN			2	427	-			34					F5GZU9|Q08AH6	Missense_Mutation	SNP	ENST00000263846.4	37	c.100C>G	CCDS31577.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.9	4.060127	0.76074	0.0	1.16E-4	ENSG00000011347	ENST00000263846;ENST00000540677;ENST00000539008;ENST00000542836;ENST00000542670;ENST00000535826;ENST00000545053	T;T;T;T;T;T;T	0.71222	-0.28;-0.55;-0.11;-0.24;-0.34;-0.33;1.05	4.98	4.06	0.47325	.	0.425981	0.21371	N	0.075621	T	0.51534	0.1680	N	0.24115	0.695	0.32985	D	0.524181	B;B	0.15473	0.006;0.013	B;B	0.11329	0.006;0.003	T	0.50320	-0.8842	10	0.02654	T	1	.	12.5931	0.56453	0.0:0.0:0.6985:0.3015	.	34;34	F5GZU9;O43581	.;SYT7_HUMAN	V	34	ENSP00000263846:L34V;ENSP00000444201:L34V;ENSP00000439694:L34V;ENSP00000444568:L34V;ENSP00000444019:L34V;ENSP00000437720:L34V;ENSP00000443576:L34V	ENSP00000263846:L34V	L	-	1	0	SYT7	61080187	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.307000	0.59123	1.201000	0.43203	0.591000	0.81541	CTC		0.662	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200		13	23	0	0	0	1	0	13	23				
DACT1	51339	broad.mit.edu	37	14	59112126	59112126	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr14:59112126A>T	ENST00000335867.4	+	4	809	c.785A>T	c.(784-786)aAc>aTc	p.N262I	DACT1_ENST00000541264.2_De_novo_Start_OutOfFrame|DACT1_ENST00000555845.1_3'UTR|DACT1_ENST00000395153.3_Missense_Mutation_p.N225I|DACT1_ENST00000556859.1_De_novo_Start_OutOfFrame			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	262					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GTGTCTAAAAACGGGAATGAT	0.493																																						ENST00000395151.3																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53								dishevelled-binding antagonist of beta-catenin 1							173.0	158.0	163.0					14																	59112126		2203	4300	6503	SO:0001583	missense	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112126A>T	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.785A>T	14.37:g.59112126A>T	ENSP00000337439:p.Asn262Ile					DACT1_ENST00000335867.4_Missense_Mutation_p.N262I|DACT1_ENST00000555845.1_3'UTR|DACT1_ENST00000541264.2_De_novo_Start_OutOfFrame|DACT1_ENST00000395153.3_Missense_Mutation_p.N225I|DACT1_ENST00000556859.1_De_novo_Start_OutOfFrame				Q9NYF0	DACT1_HUMAN			0	401	+								A8MYJ2|Q86TY0	Translation_Start_Site	SNP	ENST00000335867.4	37		CCDS9736.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.443273	0.63067	.	.	ENSG00000165617	ENST00000395153;ENST00000335867	T;T	0.51817	0.69;0.69	5.71	5.71	0.89125	.	0.047075	0.85682	D	0.000000	T	0.69405	0.3107	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73375	-0.4002	10	0.87932	D	0	-29.5528	15.979	0.80091	1.0:0.0:0.0:0.0	.	225;262	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	I	225;262	ENSP00000378582:N225I;ENSP00000337439:N262I	ENSP00000337439:N262I	N	+	2	0	DACT1	58181879	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.732000	0.68563	2.182000	0.69389	0.460000	0.39030	AAC		0.493	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		9	66	0	0	0	1	0	9	66				
MTA1	9112	broad.mit.edu	37	14	105936451	105936451	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr14:105936451C>T	ENST00000331320.7	+	21	2261	c.2047C>T	c.(2047-2049)Cgg>Tgg	p.R683W	RP11-521B24.5_ENST00000552675.1_RNA|MTA1_ENST00000435036.2_Missense_Mutation_p.R223W|CRIP2_ENST00000483017.3_5'Flank|MTA1_ENST00000406191.1_Missense_Mutation_p.R671W|MTA1_ENST00000405646.1_Missense_Mutation_p.R666W	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	683					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		TGCTGCCCGCCGGCCCTACAA	0.701																																						ENST00000331320.7																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14						c.(2047-2049)Cgg>Tgg		metastasis associated 1							50.0	41.0	44.0					14																	105936451		2198	4294	6492	SO:0001583	missense	9112				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:105936451C>T	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.2047C>T	14.37:g.105936451C>T	ENSP00000333633:p.Arg683Trp					MTA1_ENST00000406191.1_Missense_Mutation_p.R671W|MTA1_ENST00000405646.1_Missense_Mutation_p.R666W|RP11-521B24.5_ENST00000552675.1_RNA|MTA1_ENST00000435036.2_Missense_Mutation_p.R223W	p.R683W	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	21	2261	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	683					A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	ENST00000331320.7	37	c.2047C>T	CCDS32169.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.130440|4.130440	0.77549|0.77549	.|.	.|.	ENSG00000182979|ENSG00000182979	ENST00000494981|ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000434050;ENST00000435036;ENST00000426567	.|T;T;T;T;T;T	.|0.53206	.|1.29;1.37;1.29;1.27;0.67;0.63	4.73|4.73	1.77|1.77	0.24775|0.24775	.|.	.|0.143809	.|0.48286	.|D	.|0.000193	T|T	0.55721|0.55721	0.1938|0.1938	L|L	0.39898|0.39898	1.24|1.24	0.49798|0.49798	D|D	0.999824|0.999824	.|D;D	.|0.89917	.|0.999;1.0	.|P;D	.|0.65684	.|0.842;0.937	T|T	0.55786|0.55786	-0.8086|-0.8086	5|10	.|0.87932	.|D	.|0	-26.4545|-26.4545	12.9875|12.9875	0.58599|0.58599	0.3196:0.6804:0.0:0.0|0.3196:0.6804:0.0:0.0	.|.	.|479;683	.|Q59FW1;Q13330	.|.;MTA1_HUMAN	L|W	109|596;683;671;666;479;223;95	.|ENSP00000333633:R683W;ENSP00000385702:R671W;ENSP00000384180:R666W;ENSP00000394106:R479W;ENSP00000389425:R223W;ENSP00000395371:R95W	.|ENSP00000333633:R683W	P|R	+|+	2|1	0|2	MTA1|MTA1	105007496|105007496	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	1.414000|1.414000	0.34736|0.34736	0.061000|0.061000	0.16311|0.16311	0.491000|0.491000	0.48974|0.48974	CCG|CGG		0.701	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			5	106	0	0	0	1	0	5	106				
SYT10	341359	broad.mit.edu	37	12	33579131	33579131	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:33579131G>A	ENST00000228567.3	-	2	747	c.451C>T	c.(451-453)Cat>Tat	p.H151Y	SYT10_ENST00000535526.1_5'UTR|SYT10_ENST00000567656.1_5'Flank	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	151					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTAATTAAATGTTCTTTTAAA	0.403																																						ENST00000228567.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42						c.(451-453)Cat>Tat		synaptotagmin X							187.0	195.0	193.0					12																	33579131		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33579131G>A	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.451C>T	12.37:g.33579131G>A	ENSP00000228567:p.His151Tyr					SYT10_ENST00000535526.1_5'UTR	p.H151Y	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN			2	747	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		151					Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.451C>T	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557566	0.65425	.	.	ENSG00000110975	ENST00000228567	T	0.49432	0.78	3.78	3.78	0.43462	.	0.000000	0.42821	U	0.000655	T	0.45975	0.1369	L	0.54323	1.7	0.80722	D	1	P	0.47106	0.89	B	0.41917	0.37	T	0.55909	-0.8066	10	0.56958	D	0.05	.	15.8987	0.79356	0.0:0.0:1.0:0.0	.	151	Q6XYQ8	SYT10_HUMAN	Y	151	ENSP00000228567:H151Y	ENSP00000228567:H151Y	H	-	1	0	SYT10	33470398	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.246000	0.65411	2.390000	0.81377	0.655000	0.94253	CAT		0.403	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		64	68	0	0	0	1	0	64	68				
TRGC1	6966	broad.mit.edu	37	7	38299789	38299789	+	RNA	SNP	A	A	G	rs117590081	byFrequency	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr7:38299789A>G	ENST00000443402.2	-	0	420					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											GAGGAGGTACATGTAATATGC	0.423																																						ENST00000443402.2																			0																				183.0	204.0	197.0					7																	38299789		1995	4208	6203			0							g.chr7:38299789A>G	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38299789A>G								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	420	-									RNA	SNP	ENST00000443402.2	37																																																																																						0.423	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		3	21	0	0	0	1	0	3	21				
TFDP2	7029	broad.mit.edu	37	3	141671514	141671514	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:141671514A>T	ENST00000489671.1	-	13	1612	c.1182T>A	c.(1180-1182)gaT>gaA	p.D394E	TFDP2_ENST00000479040.1_Missense_Mutation_p.D333E|TFDP2_ENST00000317104.7_Missense_Mutation_p.D318E|TFDP2_ENST00000499676.2_Missense_Mutation_p.D334E|TFDP2_ENST00000397991.4_Missense_Mutation_p.D366E|TFDP2_ENST00000477292.1_Missense_Mutation_p.D258E|TFDP2_ENST00000495310.1_Missense_Mutation_p.D297E|TFDP2_ENST00000486111.1_Missense_Mutation_p.D334E|TFDP2_ENST00000467072.1_Missense_Mutation_p.D334E|TFDP2_ENST00000310282.6_Missense_Mutation_p.D334E			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	394					gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			kidney(1)|upper_aerodigestive_tract(2)	3						CCACTTCTGCATCCAAGCATA	0.483																																						ENST00000499676.2																			0				kidney(1)|upper_aerodigestive_tract(2)	3						c.(1000-1002)gaT>gaA		transcription factor Dp-2 (E2F dimerization partner 2)							50.0	53.0	52.0					3																	141671514		1963	4143	6106	SO:0001583	missense	7029				cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding	g.chr3:141671514A>T	U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.1182T>A	3.37:g.141671514A>T	ENSP00000420616:p.Asp394Glu					TFDP2_ENST00000486111.1_Missense_Mutation_p.D334E|TFDP2_ENST00000495310.1_Missense_Mutation_p.D297E|TFDP2_ENST00000489671.1_Missense_Mutation_p.D394E|TFDP2_ENST00000317104.7_Missense_Mutation_p.D318E|TFDP2_ENST00000310282.6_Missense_Mutation_p.D334E|TFDP2_ENST00000479040.1_Missense_Mutation_p.D333E|TFDP2_ENST00000397991.4_Missense_Mutation_p.D366E|TFDP2_ENST00000467072.1_Missense_Mutation_p.D334E|TFDP2_ENST00000477292.1_Missense_Mutation_p.D258E	p.D334E	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN			13	1673	-			394					B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Missense_Mutation	SNP	ENST00000489671.1	37	c.1002T>A	CCDS54650.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932857	0.52866	.	.	ENSG00000114126	ENST00000499676;ENST00000489671;ENST00000486111;ENST00000477292;ENST00000495310;ENST00000467072;ENST00000317104;ENST00000310282;ENST00000479040;ENST00000397991	T;T;T;T;T;T;T;T;T;T	0.50277	1.73;1.69;1.73;0.77;0.75;1.73;1.74;1.73;1.73;1.66	6.08	-0.659	0.11424	.	0.066813	0.64402	D	0.000010	T	0.26231	0.0640	N	0.19112	0.55	0.33703	D	0.61486	B;B;B	0.17465	0.001;0.013;0.022	B;B;B	0.17433	0.002;0.008;0.018	T	0.08617	-1.0713	10	0.36615	T	0.2	-9.9845	6.3399	0.21316	0.5399:0.127:0.3332:0.0	.	297;394;334	B7Z8L5;Q14188;Q14188-5	.;TFDP2_HUMAN;.	E	334;394;334;258;297;334;318;334;333;366	ENSP00000439782:D334E;ENSP00000420616:D394E;ENSP00000420599:D334E;ENSP00000418971:D258E;ENSP00000419036:D297E;ENSP00000418590:D334E;ENSP00000315668:D318E;ENSP00000309622:D334E;ENSP00000417585:D333E;ENSP00000381078:D366E	ENSP00000309622:D334E	D	-	3	2	TFDP2	143154204	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	2.891000	0.48617	-0.034000	0.13713	0.482000	0.46254	GAT		0.483	TFDP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353294.4	NM_006286		4	53	0	0	0	1	0	4	53				
OR2T35	403244	broad.mit.edu	37	1	248801912	248801912	+	Silent	SNP	C	C	G	rs1770044	byFrequency	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr1:248801912C>G	ENST00000317450.3	-	1	647	c.648G>C	c.(646-648)gtG>gtC	p.V216V		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V216V(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCGTGTAGGACACAGAGATGA	0.542																																						ENST00000317450.3																			1	Substitution - coding silent(1)	p.V216V(1)	endometrium(1)	endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6						c.(646-648)gtG>gtC		olfactory receptor, family 2, subfamily T, member 35							132.0	107.0	115.0					1																	248801912		2057	4250	6307	SO:0001819	synonymous_variant	403244				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248801912C>G	BK004475	CCDS31123.1	1q44	2012-08-09			ENSG00000177151	ENSG00000177151		"""GPCR / Class A : Olfactory receptors"""	31257	protein-coding gene	gene with protein product							Standard	NM_001001827		Approved		uc001ies.1	Q8NGX2	OTTHUMG00000040380	ENST00000317450.3:c.648G>C	1.37:g.248801912C>G							p.V216V	NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	647	-	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	216					Q6IEY7	Silent	SNP	ENST00000317450.3	37	c.648G>C	CCDS31123.1																																																																																				0.542	OR2T35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097130.1	NM_001001827		3	20	0	0	0	1	0	3	20				
ITGAM	3684	broad.mit.edu	37	16	31277424	31277424	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr16:31277424C>T	ENST00000287497.8	+	5	458	c.383C>T	c.(382-384)tCc>tTc	p.S128F	ITGAM_ENST00000544665.3_Missense_Mutation_p.S128F|RNU7-199P_ENST00000517067.1_RNA			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	128					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTGTTTGGATCCAACCTACGG	0.612																																						ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(382-384)tCc>tTc		integrin, alpha M (complement component 3 receptor 3 subunit)							65.0	67.0	66.0					16																	31277424		1995	4165	6160	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31277424C>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.383C>T	16.37:g.31277424C>T	ENSP00000287497:p.Ser128Phe					ITGAM_ENST00000287497.8_Missense_Mutation_p.S128F	p.S128F	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN			5	454	+			128					Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.383C>T	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213765	0.39102	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.62232	0.04;0.04	5.33	5.33	0.75918	.	.	.	.	.	T	0.68439	0.3001	M	0.87269	2.87	0.09310	N	0.999998	B;B	0.31227	0.314;0.314	B;B	0.33196	0.159;0.159	T	0.66044	-0.6021	9	0.66056	D	0.02	.	11.7109	0.51625	0.1762:0.8238:0.0:0.0	.	128;128	Q4VAK1;P11215	.;ITAM_HUMAN	F	128	ENSP00000441691:S128F;ENSP00000287497:S128F	ENSP00000287497:S128F	S	+	2	0	ITGAM	31184925	0.841000	0.29509	0.620000	0.29132	0.675000	0.39556	4.271000	0.58902	2.506000	0.84524	0.644000	0.83932	TCC		0.612	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		17	46	0	0	0	1	0	17	46				
SALL4P1	100419717	broad.mit.edu	37	5	56718446	56718463	+	RNA	DEL	CAAGTCTATGAGAAAACT	CAAGTCTATGAGAAAACT	-	rs35384455		TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr5:56718446_56718463delCAAGTCTATGAGAAAACT	ENST00000506106.1	+	0	119																											GGAGAAAACGCAAGTCTATGAGAAAACTCAAGTCTATG	0.541																																						ENST00000506106.1																			0																																																			0							g.chr5:56718446_56718463delCAAGTCTATGAGAAAACT																													5.37:g.56718446_56718463delCAAGTCTATGAGAAAACT														0	119	+									RNA	DEL	ENST00000506106.1	37																																																																																						0.541	CTD-2023N9.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000369242.1			5	2						5	2	---	---	---	---
NFKBIL1	4795	broad.mit.edu	37	6	31526109	31526110	+	Frame_Shift_Del	DEL	GG	GG	-	rs199905519		TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr6:31526109_31526110delGG	ENST00000376148.4	+	4	981_982	c.867_868delGG	c.(865-870)gcggggfs	p.G290fs	NFKBIL1_ENST00000376145.4_Frame_Shift_Del_p.G275fs	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	290					cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of transcription factor (GO:0042994)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)	cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CCAGAGGAGCGGGGAGGGGCAG	0.723																																						ENST00000376148.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						c.(865-870)gcggfs		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1																																				SO:0001589	frameshift_variant	4795				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:31526109_31526110delGG	X77909	CCDS4700.1, CCDS47399.1, CCDS47400.1	6p21.3	2010-02-17			ENSG00000204498	ENSG00000204498			7800	protein-coding gene	gene with protein product		601022		NFKBIL		8081366	Standard	NM_005007		Approved	IKBL	uc003nub.3	Q9UBC1	OTTHUMG00000031038	ENST00000376148.4:c.867_868delGG	6.37:g.31526111_31526112delGG	ENSP00000365318:p.Gly290fs					NFKBIL1_ENST00000376145.4_Frame_Shift_Del_p.AG274fs	p.AG289fs	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN			4	981_982	+			289					A6NL91|B4DUW1|Q14625|Q5HYU4|Q5RJ72|Q5ST96|Q5STV4|Q5STV5|Q9UBX4	Frame_Shift_Del	DEL	ENST00000376148.4	37	c.867_868delGG	CCDS4700.1																																																																																				0.723	NFKBIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076036.3	NM_005007		2	4						2	4	---	---	---	---
URGCP	55665	broad.mit.edu	37	7	43917132	43917133	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr7:43917132_43917133insA	ENST00000453200.1	-	6	2422_2423	c.1929_1930insT	c.(1927-1932)tttgccfs	p.A644fs	URGCP_ENST00000497914.1_5'UTR|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Frame_Shift_Ins_p.A601fs|URGCP_ENST00000402306.3_Frame_Shift_Ins_p.A635fs|URGCP_ENST00000443736.1_Frame_Shift_Ins_p.A601fs|URGCP_ENST00000336086.6_Frame_Shift_Ins_p.A601fs|URGCP_ENST00000447717.3_Frame_Shift_Ins_p.A601fs			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	644					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGGAAGTGGGCAAAACGCCTCT	0.629																																						ENST00000336086.6																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1798-1803)ttcccafs		upregulator of cell proliferation																																				SO:0001589	frameshift_variant	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43917132_43917133insA		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1930dupT	7.37:g.43917136_43917136dupA	ENSP00000396918:p.Ala644fs					URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Frame_Shift_Ins_p.FP600fs|URGCP_ENST00000453200.1_Frame_Shift_Ins_p.FP643fs|URGCP_ENST00000443736.1_Frame_Shift_Ins_p.FP600fs|URGCP_ENST00000402306.3_Frame_Shift_Ins_p.FP634fs|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Frame_Shift_Ins_p.FP600fs	p.FP600fs			Q8TCY9	URGCP_HUMAN			4	4036_4037	-			643					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Frame_Shift_Ins	INS	ENST00000453200.1	37	c.1800_1801insT	CCDS47578.1																																																																																				0.629	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		14	86						14	86	---	---	---	---
ADAM28	10863	broad.mit.edu	37	8	24157535	24157558	+	In_Frame_Del	DEL	ATCCTATAAGACTTCATCCACTGC	ATCCTATAAGACTTCATCCACTGC	-	rs369332654|rs375587519		TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr8:24157535_24157558delATCCTATAAGACTTCATCCACTGC	ENST00000265769.4	+	2	205_228	c.95_118delATCCTATAAGACTTCATCCACTGC	c.(94-120)tatcctataagacttcatccactgcat>tat	p.PIRLHPLH33del	ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000437154.2_In_Frame_Del_p.PIRLHPLH33del	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	33					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R35I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GAAGTGGTTTATCCTATAAGACTTCATCCACTGCATAAAAGAGA	0.362																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			1	Substitution - Missense(1)	p.R35I(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(94-120)tat>t		ADAM metallopeptidase domain 28																																				SO:0001651	inframe_deletion	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24157535_24157558delATCCTATAAGACTTCATCCACTGC	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.95_118delATCCTATAAGACTTCATCCACTGC	8.37:g.24157535_24157558delATCCTATAAGACTTCATCCACTGC	ENSP00000265769:p.Pro33_His40del					RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000437154.2_In_Frame_Del_p.YPIRLHPLH32del|ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000540823.1_5'UTR	p.YPIRLHPLH32del	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	2	205_228	+		Prostate(55;0.0959)	32					B2RMV5|Q9Y339|Q9Y3S0	In_Frame_Del	DEL	ENST00000265769.4	37	c.95_118delATCCTATAAGACTTCATCCACTGC	CCDS34865.1																																																																																				0.362	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		7	53						7	53	---	---	---	---
LINC00475	158314	broad.mit.edu	37	9	94904432	94904432	+	RNA	DEL	G	G	-	rs34310564	byFrequency	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr9:94904432delG	ENST00000416438.2	+	0	184				snoU13_ENST00000459125.1_RNA	NR_027341.1				long intergenic non-protein coding RNA 475																		GGCCTTCTTTGGGGGGGGGGT	0.612													|||unknown(HR)	1764	0.352236	0.3396	0.4957	5008	,	,		14095	0.371		0.2286	False		,,,				2504	0.3753					ENST00000416438.2																			0																																																			0							g.chr9:94904432delG	AK023662		9q22.31	2012-10-12	2011-08-31	2011-08-31	ENSG00000225511	ENSG00000225511		"""Long non-coding RNAs"""	23569	non-coding RNA	RNA, long non-coding			"""chromosome 9 open reading frame 44"""	C9orf44			Standard	NR_027341		Approved		uc004arp.1		OTTHUMG00000020216		9.37:g.94904432delG								NR_027341.1						0	184	+									RNA	DEL	ENST00000416438.2	37																																																																																						0.612	LINC00475-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000053051.2			4	3						4	3	---	---	---	---
B4GALNT1	2583	broad.mit.edu	37	12	58025102	58025103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:58025102_58025103insC	ENST00000341156.4	-	3	847_848	c.263_264insG	c.(262-264)ggcfs	p.G88fs	B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.G88fs|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.G88fs|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.G88fs	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	88					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)	p.G88fs*24(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGGGGAGGCCCCCCCCACT	0.589																																						ENST00000341156.4																			1	Deletion - Frameshift(1)	p.G88fs*24(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(262-264)gctfs		beta-1,4-N-acetyl-galactosaminyl transferase 1				32,4228		0,32,2098						1.8	0.0			83	25,8229		0,25,4102	no	frameshift	B4GALNT1	NM_001478.3		0,57,6200	A1A1,A1R,RR		0.3029,0.7512,0.4555				57,12457				SO:0001589	frameshift_variant	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58025102_58025103insC	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.264dupG	12.37:g.58025110_58025110dupC	ENSP00000341562:p.Gly88fs					B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.A88fs	p.A88fs	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		3	847_848	-	Melanoma(17;0.122)		88					B4DE26|Q8N636	Frame_Shift_Ins	INS	ENST00000341156.4	37	c.263_264insG	CCDS8950.1																																																																																				0.589	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		8	161						8	161	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23914964	23914967	+	Frame_Shift_Del	DEL	AAGG	AAGG	-			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr13:23914964_23914967delAAGG	ENST00000382292.3	-	9	3321_3324	c.3048_3051delCCTT	c.(3046-3051)gtccttfs	p.VL1016fs	SACS_ENST00000402364.1_Frame_Shift_Del_p.VL266fs|SACS_ENST00000382298.3_Frame_Shift_Del_p.VL1016fs			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1016					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATAGATTCTCAAGGACCCATAACA	0.343																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(3046-3051)gtfs		spastic ataxia of Charlevoix-Saguenay (sacsin)																																				SO:0001589	frameshift_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23914964_23914967delAAGG	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.3048_3051delCCTT	13.37:g.23914964_23914967delAAGG	ENSP00000371729:p.Val1016fs					SACS_ENST00000402364.1_Frame_Shift_Del_p.VL266fs|SACS_ENST00000382292.3_Frame_Shift_Del_p.VL1016fs	p.VL1016fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	3636_3639	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1016					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Frame_Shift_Del	DEL	ENST00000382292.3	37	c.3048_3051delCCTT	CCDS9300.2																																																																																				0.343	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		35	73						35	73	---	---	---	---
APOBR	55911	broad.mit.edu	37	16	28511176	28511178	+	IGR	DEL	CTC	CTC	-			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr16:28511176_28511178delCTC	ENST00000431282.1	+	0	3414				IL27_ENST00000356897.1_In_Frame_Del_p.E176del			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor						cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCCCCTtcctctcctcctcctcc	0.685																																						ENST00000356897.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						c.(526-528)del		interleukin 27																																				SO:0001628	intergenic_variant	246778				inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding	g.chr16:28511176_28511178delCTC	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83			16.37:g.28511185_28511187delCTC							p.E176del	NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN			5	548_550	-			176			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	In_Frame_Del	DEL	ENST00000431282.1	37	c.526_528delGAG																																																																																					0.685	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		2	4						2	4	---	---	---	---
KRT16P1	729252	broad.mit.edu	37	17	18343315	18343316	+	RNA	INS	-	-	C	rs530108987	byFrequency	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:18343315_18343316insC	ENST00000581027.1	+	0	252									keratin 16 pseudogene 1																		ACCTGCAGCCACCAGTTCACCT	0.629													cc|CC|CCC|insertion	73	0.0145767	0.053	0.0014	5008	,	,		15301	0.0		0.002	False		,,,				2504	0.0					ENST00000580052.1																			0																																																			0							g.chr17:18343315_18343316insC			17p11.2	2012-08-13	2010-02-25	2010-02-25	ENSG00000214856	ENSG00000214856			6420	pseudogene	pseudogene			"""keratin 14 pseudogene"""	KRT14P			Standard	NR_073414		Approved		uc010vya.2		OTTHUMG00000059249		17.37:g.18343317_18343317dupC						KRT16P1_ENST00000581027.1_RNA								0	43	+									RNA	INS	ENST00000581027.1	37																																																																																						0.629	KRT16P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000446576.1	NG_007001		5	3						5	3	---	---	---	---
