#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
RNPEPL1	57140	broad.mit.edu	37	2	241513564	241513564	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr2:241513564A>G	ENST00000270357.4	+	5	873	c.280A>G	c.(280-282)Atc>Gtc	p.I94V		NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	94					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CTCCTTCCCCATCGTGGCCAT	0.627																																						ENST00000270357.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13						c.(280-282)Atc>Gtc		arginyl aminopeptidase (aminopeptidase B)-like 1							130.0	94.0	107.0					2																	241513564		2203	4300	6503	SO:0001583	missense	57140				leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr2:241513564A>G			2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.280A>G	2.37:g.241513564A>G	ENSP00000270357:p.Ile94Val						p.I94V	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)	5	873	+		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)	94					Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	ENST00000270357.4	37	c.280A>G		.	.	.	.	.	.	.	.	.	.	a	16.56	3.158742	0.57368	.	.	ENSG00000142327	ENST00000270357	T	0.02498	4.27	5.08	3.88	0.44766	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.054715	0.64402	D	0.000001	T	0.03608	0.0103	N	0.19112	0.55	0.43360	D	0.995439	B	0.26318	0.146	B	0.39935	0.314	T	0.51132	-0.8744	10	0.72032	D	0.01	-8.666	9.1551	0.36988	0.8364:0.0:0.0:0.1636	.	94	Q9HAU8	RNPL1_HUMAN	V	94	ENSP00000270357:I94V	ENSP00000270357:I94V	I	+	1	0	RNPEPL1	241162237	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.740000	0.74832	0.716000	0.32124	0.398000	0.26397	ATC		0.627	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4	NM_018226		10	21	0	0	0	1	0	10	21				
TANC2	26115	broad.mit.edu	37	17	61499249	61499249	+	Missense_Mutation	SNP	G	G	A	rs143701650		TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr17:61499249G>A	ENST00000424789.2	+	25	5910	c.5906G>A	c.(5905-5907)cGa>cAa	p.R1969Q	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1979Q	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1969					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CAGCTGTCCCGAGACTCTCGG	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19601	0.0		0.0	False		,,,				2504	0.0					ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(5905-5907)cGa>cAa		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							62.0	64.0	64.0					17																	61499249		2029	4191	6220	SO:0001583	missense	26115						binding	g.chr17:61499249G>A	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.5906G>A	17.37:g.61499249G>A	ENSP00000387593:p.Arg1969Gln					RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1979Q	p.R1969Q	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			25	5910	+			1969					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.5906G>A	CCDS45754.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	21.0	4.086452	0.76642	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.69040	-0.37;-0.37	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.62792	0.2457	N	0.24115	0.695	0.50813	D	0.999899	D	0.61697	0.99	P	0.47603	0.551	T	0.65059	-0.6260	10	0.51188	T	0.08	.	20.312	0.98644	0.0:0.0:1.0:0.0	.	1969	Q9HCD6	TANC2_HUMAN	Q	1979;1969	ENSP00000374171:R1979Q;ENSP00000387593:R1969Q	ENSP00000374171:R1979Q	R	+	2	0	TANC2	58852981	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.005000	0.88553	2.866000	0.98385	0.650000	0.86243	CGA		0.532	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			13	24	0	0	0	1	0	13	24				
FAM71A	149647	broad.mit.edu	37	1	212798288	212798288	+	Silent	SNP	C	C	T			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr1:212798288C>T	ENST00000294829.3	+	1	500	c.69C>T	c.(67-69)acC>acT	p.T23T	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	23						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TGTTCAACACCACCATGGGGA	0.488																																						ENST00000294829.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(67-69)acC>acT		family with sequence similarity 71, member A							109.0	98.0	101.0					1																	212798288		2203	4300	6503	SO:0001819	synonymous_variant	149647							g.chr1:212798288C>T		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.69C>T	1.37:g.212798288C>T						RP11-338C15.5_ENST00000427949.1_RNA	p.T23T	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	500	+			23					Q5VTZ1	Silent	SNP	ENST00000294829.3	37	c.69C>T	CCDS1507.1																																																																																				0.488	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		14	37	0	0	0	1	0	14	37				
CFDP1	10428	broad.mit.edu	37	16	75446587	75446587	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr16:75446587T>C	ENST00000283882.3	-	3	380	c.248A>G	c.(247-249)gAg>gGg	p.E83G	RP11-77K12.1_ENST00000567194.1_Missense_Mutation_p.E140G|CFDP1_ENST00000564286.1_5'UTR|RP11-77K12.1_ENST00000561887.1_5'Flank	NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1	83	Glu-rich.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|negative regulation of fibroblast apoptotic process (GO:2000270)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						ACTGCTTCCCTCAGATTCTGA	0.493																																						ENST00000283882.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(247-249)gAg>gGg		craniofacial development protein 1							228.0	209.0	215.0					16																	75446587		2198	4300	6498	SO:0001583	missense	10428				multicellular organismal development			g.chr16:75446587T>C	AB009285	CCDS10916.1	16q22.2-q22.3	2011-08-12			ENSG00000153774	ENSG00000153774			1873	protein-coding gene	gene with protein product	"""Bucentaur"", ""centromere protein 29"""	608108				9602175, 9006920, 11992732	Standard	NM_006324		Approved	BCNT, p97, CP27, SWC5, Yeti, CENP-29	uc002fdy.3	Q9UEE9	OTTHUMG00000137615	ENST00000283882.3:c.248A>G	16.37:g.75446587T>C	ENSP00000283882:p.Glu83Gly					RP11-77K12.1_ENST00000567194.1_Missense_Mutation_p.E140G|CFDP1_ENST00000564286.1_5'UTR	p.E83G	NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN			3	380	-			83			Glu-rich.		O00393|O00404|Q9UEF0|Q9UEF1|Q9UEF8	Missense_Mutation	SNP	ENST00000283882.3	37	c.248A>G	CCDS10916.1	.	.	.	.	.	.	.	.	.	.	T	8.604	0.887425	0.17540	.	.	ENSG00000153774	ENST00000283882	T	0.47177	0.85	5.98	0.953	0.19590	.	0.660478	0.15326	N	0.268307	T	0.21550	0.0519	N	0.05230	-0.09	0.25185	N	0.990172	B	0.02656	0.0	B	0.01281	0.0	T	0.18304	-1.0341	10	0.22109	T	0.4	-4.4653	6.7592	0.23530	0.0:0.3824:0.0:0.6176	.	83	Q9UEE9	CFDP1_HUMAN	G	83	ENSP00000283882:E83G	ENSP00000283882:E83G	E	-	2	0	CFDP1	74004088	0.048000	0.20356	0.880000	0.34516	0.353000	0.29299	0.475000	0.22164	0.295000	0.22570	0.482000	0.46254	GAG		0.493	CFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269031.2	NM_006324		4	129	0	0	0	1	0	4	129				
VSIG4	11326	broad.mit.edu	37	X	65242294	65242294	+	Silent	SNP	G	G	A			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chrX:65242294G>A	ENST00000374737.4	-	8	1119	c.1011C>T	c.(1009-1011)gcC>gcT	p.A337A	VSIG4_ENST00000455586.2_3'UTR|VSIG4_ENST00000412866.2_Silent_p.A243A	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	337					complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTGCGAAGATGGCCACCCTCA	0.562																																						ENST00000374737.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1009-1011)gcC>gcT		V-set and immunoglobulin domain containing 4							62.0	43.0	49.0					X																	65242294		2203	4300	6503	SO:0001819	synonymous_variant	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65242294G>A	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.1011C>T	X.37:g.65242294G>A						VSIG4_ENST00000412866.2_Silent_p.A243A|VSIG4_ENST00000455586.2_3'UTR	p.A337A	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN			8	1119	-			337					Q6UXI4	Silent	SNP	ENST00000374737.4	37	c.1011C>T	CCDS14383.1																																																																																				0.562	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		10	18	0	0	0	1	0	10	18				
CXADRP3	440224	broad.mit.edu	37	18	14479160	14479160	+	lincRNA	SNP	G	G	C			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr18:14479160G>C	ENST00000581457.1	-	0	748					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		CAGATAGGTAGTTTCCCCTTT	0.493																																						ENST00000581457.1																			0																																																			440224							g.chr18:14479160G>C			18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14479160G>C								NR_024076.1						0	748	-									RNA	SNP	ENST00000581457.1	37																																																																																						0.493	CXADRP3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000443008.1	NR_024076		3	39	0	0	0	1	0	3	39				
STON2	85439	broad.mit.edu	37	14	81743629	81743629	+	Missense_Mutation	SNP	G	G	A	rs148063041		TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr14:81743629G>A	ENST00000267540.2	-	4	2226	c.2026C>T	c.(2026-2028)Cgg>Tgg	p.R676W	STON2_ENST00000556280.1_5'Flank|STON2_ENST00000555447.1_Missense_Mutation_p.R676W	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	676	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GTCCTGAACCGCATTAGCTCA	0.537																																						ENST00000555447.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(2026-2028)Cgg>Tgg		stonin 2		G	TRP/ARG	0,4406		0,0,2203	115.0	105.0	108.0		2026	4.2	1.0	14	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	missense	STON2	NM_033104.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	676/906	81743629	1,13005	2203	4300	6503	SO:0001583	missense	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81743629G>A	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.2026C>T	14.37:g.81743629G>A	ENSP00000267540:p.Arg676Trp					STON2_ENST00000267540.2_Missense_Mutation_p.R676W	p.R676W	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	6	2438	-			676			MHD.		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	c.2026C>T	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070494	0.55539	0.0	1.16E-4	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.22336	1.96;1.96	6.06	4.19	0.49359	Clathrin adaptor, mu subunit, C-terminal (3);	0.070917	0.56097	D	0.000028	T	0.51991	0.1707	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.61372	-0.7076	10	0.87932	D	0	-23.5617	15.0097	0.71542	0.0:0.0:0.5028:0.4972	.	676;676	Q8WXE9;G3V2T7	STON2_HUMAN;.	W	676;688;676	ENSP00000450857:R676W;ENSP00000267540:R676W	ENSP00000267540:R676W	R	-	1	2	STON2	80813382	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.286000	0.51724	0.838000	0.34948	0.650000	0.86243	CGG		0.537	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		3	42	0	0	0	1	0	3	42				
CCDC144A	9720	broad.mit.edu	37	17	16665777	16665777	+	Silent	SNP	T	T	C			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr17:16665777T>C	ENST00000360524.8	+	14	3893	c.3817T>C	c.(3817-3819)Ttg>Ctg	p.L1273L	CCDC144A_ENST00000456009.1_Silent_p.L1039L|RP11-219A15.1_ENST00000448331.3_Silent_p.L1273L|CCDC144A_ENST00000443444.2_Silent_p.L1273L|CCDC144A_ENST00000399273.1_Silent_p.L1273L	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1273																	TAAAACCGAATTGGAAAGATA	0.333																																						ENST00000443444.2																			0											c.(3817-3819)Ttg>Ctg		coiled-coil domain containing 144A							10.0	12.0	12.0					17																	16665777		1783	4037	5820	SO:0001819	synonymous_variant	9720							g.chr17:16665777T>C	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.3817T>C	17.37:g.16665777T>C						CCDC144A_ENST00000456009.1_Silent_p.L1039L|RP11-219A15.1_ENST00000448331.3_Silent_p.L1273L|CCDC144A_ENST00000399273.1_Silent_p.L1273L|CCDC144A_ENST00000360524.8_Silent_p.L1273L	p.L1273L			A2RUR9	C144A_HUMAN			14	3957	+			1273					O60311|Q6ZU57	Silent	SNP	ENST00000360524.8	37	c.3817T>C	CCDS45621.1																																																																																				0.333	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			3	3	0	0	0	1	0	3	3				
LGALS9C	654346	broad.mit.edu	37	17	18396088	18396088	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr17:18396088G>A	ENST00000328114.6	+	10	920	c.839G>A	c.(838-840)cGt>cAt	p.R280H	LGALS9C_ENST00000583322.1_Missense_Mutation_p.R247H|LGALS9C_ENST00000584941.1_Intron|LGALS9C_ENST00000581545.1_Intron|LGALS9C_ENST00000412421.2_Missense_Mutation_p.R192H	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	280	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						GCTGTGGTCCGTAACACCCAG	0.587																																						ENST00000328114.6																			0				NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						c.(838-840)cGt>cAt		lectin, galactoside-binding, soluble, 9C							58.0	35.0	43.0					17																	18396088		2193	4194	6387	SO:0001583	missense	654346						sugar binding	g.chr17:18396088G>A		CCDS32587.1	17p11.2	2011-08-04			ENSG00000171916	ENSG00000171916		"""Lectins, galactoside-binding"""	33874	protein-coding gene	gene with protein product							Standard	NM_001040078		Approved		uc002gtw.3	Q6DKI2	OTTHUMG00000059251	ENST00000328114.6:c.839G>A	17.37:g.18396088G>A	ENSP00000329932:p.Arg280His					LGALS9C_ENST00000584941.1_Intron|LGALS9C_ENST00000583322.1_Missense_Mutation_p.R247H|LGALS9C_ENST00000581545.1_Intron|LGALS9C_ENST00000412421.2_Missense_Mutation_p.R192H	p.R280H	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN			10	920	+			280			Galectin 2.		B0AZM7	Missense_Mutation	SNP	ENST00000328114.6	37	c.839G>A	CCDS32587.1	.	.	.	.	.	.	.	.	.	.	g	15.86	2.957948	0.53400	.	.	ENSG00000171916	ENST00000412421;ENST00000328114	T;T	0.14144	2.53;2.53	2.26	2.26	0.28386	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.46151	0.1378	H	0.96691	3.865	0.45995	D	0.998808	D	0.89917	1.0	D	0.67725	0.953	T	0.62163	-0.6912	10	0.72032	D	0.01	.	10.6469	0.45626	0.0:0.0:1.0:0.0	.	280	Q6DKI2	LEG9C_HUMAN	H	192;280	ENSP00000390286:R192H;ENSP00000329932:R280H	ENSP00000329932:R280H	R	+	2	0	LGALS9C	18336813	0.987000	0.35691	0.991000	0.47740	0.372000	0.29890	6.994000	0.76251	1.578000	0.49821	0.184000	0.17185	CGT		0.587	LGALS9C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000131456.2	NM_001040078		4	66	0	0	0	1	0	4	66				
LGALS9B	284194	broad.mit.edu	37	17	20354879	20354879	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr17:20354879C>T	ENST00000423676.3	-	10	902	c.839G>A	c.(838-840)cGt>cAt	p.R280H	LGALS9B_ENST00000324290.5_Missense_Mutation_p.R279H			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	280	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						CTGGGTGTTACGGACCACAGC	0.587																																						ENST00000423676.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						c.(838-840)cGt>cAt		lectin, galactoside-binding, soluble, 9B																																				SO:0001583	missense	284194						sugar binding	g.chr17:20354879C>T		CCDS42283.1	17p11.2	2011-08-04			ENSG00000170298	ENSG00000170298		"""Lectins, galactoside-binding"""	24842	protein-coding gene	gene with protein product						11997339	Standard	NM_001042685		Approved		uc002gwz.1	Q3B8N2	OTTHUMG00000130730	ENST00000423676.3:c.839G>A	17.37:g.20354879C>T	ENSP00000388841:p.Arg280His					LGALS9B_ENST00000324290.5_Missense_Mutation_p.R279H	p.R280H			Q3B8N2	LEG9B_HUMAN			10	902	-			280			Galectin 2.		A6NLF8|A8K2J8	Missense_Mutation	SNP	ENST00000423676.3	37	c.839G>A		.	.	.	.	.	.	.	.	.	.	C	14.72	2.620517	0.46736	.	.	ENSG00000170298	ENST00000423676;ENST00000324290	.	.	.	1.97	1.97	0.26223	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.85102	0.5620	H	0.96691	3.865	0.44523	D	0.997471	D;D	0.89917	0.998;1.0	D;D	0.74348	0.927;0.983	D	0.87431	0.2388	9	0.66056	D	0.02	.	10.0176	0.42024	0.0:1.0:0.0:0.0	.	280;279	Q3B8N2;Q3B8N2-2	LEG9B_HUMAN;.	H	279;280	.	ENSP00000315564:R280H	R	-	2	0	LGALS9B	20295471	1.000000	0.71417	0.998000	0.56505	0.415000	0.31203	5.479000	0.66813	1.434000	0.47414	0.194000	0.17425	CGT		0.587	LGALS9B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000253230.2	NM_001042685		14	19	0	0	0	1	0	14	19				
HOXA1	3198	broad.mit.edu	37	7	27135188	27135188	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr7:27135188T>A	ENST00000343060.4	-	1	405	c.344A>T	c.(343-345)cAg>cTg	p.Q115L	HOXA1_ENST00000355633.5_Missense_Mutation_p.Q115L|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000495032.1_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	115					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTCTGCTTCCTGATTTAACGC	0.562																																						ENST00000343060.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(343-345)cAg>cTg		homeobox A1							80.0	84.0	82.0					7																	27135188		2203	4300	6503	SO:0001583	missense	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135188T>A		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.344A>T	7.37:g.27135188T>A	ENSP00000343246:p.Gln115Leu					HOXA1_ENST00000355633.5_Missense_Mutation_p.Q115L	p.Q115L	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN			1	405	-			115					A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	c.344A>T	CCDS5401.1	.	.	.	.	.	.	.	.	.	.	T	15.73	2.921068	0.52653	.	.	ENSG00000105991	ENST00000343060;ENST00000355633	T;T	0.33865	1.39;1.39	5.28	5.28	0.74379	.	0.325797	0.33753	N	0.004593	T	0.44030	0.1274	L	0.60455	1.87	0.54753	D	0.999982	P;D	0.56035	0.608;0.974	B;P	0.51415	0.08;0.669	T	0.37865	-0.9687	10	0.46703	T	0.11	.	10.7917	0.46436	0.0:0.0:0.1588:0.8412	.	115;115	P49639;E7ERT8	HXA1_HUMAN;.	L	115	ENSP00000343246:Q115L;ENSP00000347851:Q115L	ENSP00000343246:Q115L	Q	-	2	0	HOXA1	27101713	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.666000	0.68059	2.005000	0.58758	0.260000	0.18958	CAG		0.562	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			3	66	0	0	0	1	0	3	66				
PAX1	5075	broad.mit.edu	37	20	21687217	21687217	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr20:21687217C>A	ENST00000398485.2	+	2	482	c.428C>A	c.(427-429)tCc>tAc	p.S143Y	PAX1_ENST00000444366.2_Missense_Mutation_p.S119Y|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	143	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CTCCGCGTATCCCACGGCTGC	0.682																																						ENST00000398485.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(427-429)tCc>tAc		paired box 1							48.0	49.0	49.0					20																	21687217		2203	4299	6502	SO:0001583	missense	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21687217C>A		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.428C>A	20.37:g.21687217C>A	ENSP00000381499:p.Ser143Tyr					PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.S119Y	p.S143Y	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN			2	482	+			143			Paired.		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	c.428C>A	CCDS13146.2	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941119	0.53079	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.99701	-6.45;-6.45	5.14	4.18	0.49190	Paired box protein, N-terminal (5);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99785	0.9910	H	0.94771	3.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.97042	0.9758	10	0.87932	D	0	.	15.2419	0.73476	0.0:0.8585:0.1415:0.0	.	119;49;143	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	Y	143;119	ENSP00000381499:S143Y;ENSP00000410355:S119Y	ENSP00000381499:S143Y	S	+	2	0	PAX1	21635217	1.000000	0.71417	0.988000	0.46212	0.144000	0.21451	7.653000	0.83643	1.136000	0.42199	-0.175000	0.13238	TCC		0.682	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			19	22	1	0	8.00594e-06	1	8.00594e-06	19	22				
MUC16	94025	broad.mit.edu	37	19	9075100	9075100	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr19:9075100C>T	ENST00000397910.4	-	3	12549	c.12346G>A	c.(12346-12348)Gcc>Acc	p.A4116T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4118	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCCAGGAGGCTGTGGCTGAT	0.493																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(12346-12348)Gcc>Acc		mucin 16, cell surface associated							110.0	107.0	108.0					19																	9075100		2105	4220	6325	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075100C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12346G>A	19.37:g.9075100C>T	ENSP00000381008:p.Ala4116Thr						p.A4116T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	12549	-			4118			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.12346G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	11.27	1.589977	0.28357	.	.	ENSG00000181143	ENST00000397910	T	0.23348	1.91	2.09	-1.9	0.07665	.	.	.	.	.	T	0.26231	0.0640	L	0.50333	1.59	.	.	.	D	0.54964	0.969	P	0.50192	0.634	T	0.31696	-0.9934	8	0.87932	D	0	.	4.4288	0.11517	0.4457:0.3348:0.2195:0.0	.	4116	B5ME49	.	T	4116	ENSP00000381008:A4116T	ENSP00000381008:A4116T	A	-	1	0	MUC16	8936100	0.000000	0.05858	0.000000	0.03702	0.738000	0.42128	-1.196000	0.03041	-0.342000	0.08363	0.313000	0.20887	GCC		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	38	0	0	0	1	0	8	38				
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862645	10862645	+	RNA	SNP	G	G	C			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr21:10862645G>C	ENST00000559480.1	+	0	24							A6NJS3	IV1U1_HUMAN	immunoglobulin heavy variable 1/OR21-1 (non-functional)							extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GGAGGATCCTGTTTTTGGTGG	0.507																																						ENST00000559480.1																			0				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26															352.0	330.0	337.0					21																	10862645		1950	4148	6098			390530							g.chr21:10862645G>C			21p11.2	2014-05-06	2010-11-09		ENSG00000169861	ENSG00000277282		"""Immunoglobulins / IGH orphons"""	38040	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR21-1 pseudogene"""				Standard	NG_011680		Approved	IGHV1/OR21-1		A6NJS3	OTTHUMG00000188295		21.37:g.10862645G>C														0	24	+									RNA	SNP	ENST00000559480.1	37																																																																																						0.507	IGHV1OR21-1-201	KNOWN	basic|appris_principal	IG_V_gene	IG_V_gene		NG_011680		4	283	0	0	0	1	0	4	283				
RNF10	9921	broad.mit.edu	37	12	121002881	121002881	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr12:121002881C>T	ENST00000325954.4	+	11	2133	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	RNF10_ENST00000413266.2_Nonsense_Mutation_p.R563*	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	558					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTAGGATGTTCGACAGCGTCA	0.453																																						ENST00000325954.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27						c.(1672-1674)Cga>Tga		ring finger protein 10							209.0	195.0	200.0					12																	121002881		2203	4300	6503	SO:0001587	stop_gained	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:121002881C>T	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1672C>T	12.37:g.121002881C>T	ENSP00000322242:p.Arg558*					RNF10_ENST00000413266.2_Nonsense_Mutation_p.R563*	p.R558*	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN			11	2133	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		558					Q92550|Q9NPP8|Q9ULW4	Nonsense_Mutation	SNP	ENST00000325954.4	37	c.1672C>T	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	C	37	6.487559	0.97607	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000546262;ENST00000540046	.	.	.	5.71	4.82	0.62117	.	0.197037	0.44688	D	0.000425	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.328	0.55022	0.1408:0.7381:0.1211:0.0	.	.	.	.	X	558;558;563;6;102	.	ENSP00000322242:R558X	R	+	1	2	RNF10	119487264	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	6.003000	0.70701	1.410000	0.46936	-0.176000	0.13171	CGA		0.453	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			42	67	0	0	0	1	0	42	67				
ZNF780A	284323	broad.mit.edu	37	19	40580901	40580901	+	Missense_Mutation	SNP	T	T	C	rs548964777		TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr19:40580901T>C	ENST00000595687.2	-	6	1657	c.1448A>G	c.(1447-1449)aAt>aGt	p.N483S	ZNF780A_ENST00000340963.5_Missense_Mutation_p.N483S|ZNF780A_ENST00000450241.2_Missense_Mutation_p.N449S|ZNF780A_ENST00000455521.1_Missense_Mutation_p.N484S|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.N484S|AC005614.5_ENST00000595508.1_RNA	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGAGCCACGATTGAAGGCCTT	0.423													t|||	1	0.000199681	0.0	0.0	5008	,	,		22882	0.001		0.0	False		,,,				2504	0.0					ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1345-1347)aAt>aGt		zinc finger protein 780A							115.0	112.0	113.0					19																	40580901		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580901T>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1448A>G	19.37:g.40580901T>C	ENSP00000472189:p.Asn483Ser					ZNF780A_ENST00000595687.2_Missense_Mutation_p.N483S|ZNF780A_ENST00000340963.5_Missense_Mutation_p.N483S|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.N484S|ZNF780A_ENST00000455521.1_Missense_Mutation_p.N484S|ZNF780A_ENST00000414720.2_Intron	p.N449S			O75290	Z780A_HUMAN			6	1657	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		483					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1346A>G	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	t	0.066	-1.212240	0.01555	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.07216	3.21;3.21	1.93	0.815	0.18763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01940	0.0061	N	0.00859	-1.14	0.09310	N	1	B;B	0.28933	0.228;0.013	B;B	0.33454	0.164;0.027	T	0.42849	-0.9427	9	0.02654	T	1	.	2.9832	0.05960	0.0:0.5077:0.2858:0.2065	.	484;483	E9PB48;O75290	.;Z780A_HUMAN	S	483;484;483	ENSP00000400997:N484S;ENSP00000341507:N483S	ENSP00000341507:N483S	N	-	2	0	ZNF780A	45272741	0.000000	0.05858	0.003000	0.11579	0.654000	0.38779	-5.575000	0.00112	0.096000	0.17463	0.260000	0.18958	AAT		0.423	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		46	47	0	0	0	1	0	46	47				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		7	51	0	0	0	1	0	7	51				
SPAG17	200162	broad.mit.edu	37	1	118548121	118548121	+	Silent	SNP	C	C	T			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr1:118548121C>T	ENST00000336338.5	-	32	4757	c.4692G>A	c.(4690-4692)gaG>gaA	p.E1564E		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1564						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.E1564D(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTCGCAGCTGCTCACGCTTTT	0.443																																						ENST00000336338.5																			1	Substitution - Missense(1)	p.E1564D(1)	lung(1)	NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(4690-4692)gaG>gaA		sperm associated antigen 17							130.0	126.0	128.0					1																	118548121		2203	4300	6503	SO:0001819	synonymous_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118548121C>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4692G>A	1.37:g.118548121C>T							p.E1564E	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	32	4757	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1564					Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	c.4692G>A	CCDS899.1																																																																																				0.443	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		27	12	0	0	0	1	0	27	12				
SUPT7L	9913	broad.mit.edu	37	2	27876404	27876404	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr2:27876404C>G	ENST00000337768.5	-	6	1762	c.1193G>C	c.(1192-1194)gGg>gCg	p.G398A	SUPT7L_ENST00000406540.1_Missense_Mutation_p.G396A|SUPT7L_ENST00000405491.1_Missense_Mutation_p.G396A|SUPT7L_ENST00000404798.2_Missense_Mutation_p.G263A|SUPT7L_ENST00000464789.2_Missense_Mutation_p.G396A	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	398					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					AGGGGAGGACCCCATGAGGCT	0.498																																						ENST00000337768.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16						c.(1192-1194)gGg>gCg		suppressor of Ty 7 (S. cerevisiae)-like							103.0	106.0	105.0					2																	27876404		1908	4137	6045	SO:0001583	missense	9913				histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:27876404C>G	AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.1193G>C	2.37:g.27876404C>G	ENSP00000336750:p.Gly398Ala					SUPT7L_ENST00000404798.2_Missense_Mutation_p.G263A|SUPT7L_ENST00000406540.1_Missense_Mutation_p.G396A|SUPT7L_ENST00000405491.1_Missense_Mutation_p.G396A|SUPT7L_ENST00000464789.2_Missense_Mutation_p.G396A	p.G398A	NM_014860.1	NP_055675.1	O94864	ST65G_HUMAN			6	1762	-	Acute lymphoblastic leukemia(172;0.155)		398					B4E3W3|Q6IB21|Q9H2T6	Missense_Mutation	SNP	ENST00000337768.5	37	c.1193G>C	CCDS42667.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724138	0.89298	.	.	ENSG00000119760	ENST00000337768;ENST00000406540;ENST00000405491;ENST00000464789;ENST00000404798	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.55016	0.1894	L	0.29908	0.895	0.80722	D	1	P;P;P	0.41393	0.633;0.748;0.633	B;B;B	0.42555	0.219;0.391;0.219	T	0.57464	-0.7807	9	0.87932	D	0	-29.8978	20.8794	0.99867	0.0:1.0:0.0:0.0	.	263;396;398	B4E3W3;O94864-2;O94864	.;.;ST65G_HUMAN	A	398;396;396;396;263	.	ENSP00000336750:G398A	G	-	2	0	SUPT7L	27729908	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.644000	0.67902	2.941000	0.99782	0.655000	0.94253	GGG		0.498	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324568.1	NM_014860		19	28	0	0	0	1	0	19	28				
MYO18B	84700	broad.mit.edu	37	22	26165009	26165009	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr22:26165009G>A	ENST00000407587.2	+	4	1295	c.1126G>A	c.(1126-1128)Ggt>Agt	p.G376S	MYO18B_ENST00000335473.7_Missense_Mutation_p.G376S|MYO18B_ENST00000536101.1_Missense_Mutation_p.G376S			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	376						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGAGAAAGCAGGTGAGCTTCG	0.572																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(1126-1128)Ggt>Agt		myosin XVIIIB							38.0	42.0	41.0					22																	26165009		2092	4209	6301	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26165009G>A	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.1126G>A	22.37:g.26165009G>A	ENSP00000386096:p.Gly376Ser					MYO18B_ENST00000407587.2_Missense_Mutation_p.G376S|MYO18B_ENST00000536101.1_Missense_Mutation_p.G376S	p.G376S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			4	1376	+			376					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.1126G>A		.	.	.	.	.	.	.	.	.	.	G	11.40	1.627690	0.28978	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86956	-2.14;-2.14;-2.19	3.15	-1.89	0.07689	.	1.041620	0.07694	N	0.939220	T	0.75302	0.3831	N	0.24115	0.695	0.09310	N	1	B;B;B	0.32829	0.267;0.386;0.386	B;B;B	0.30646	0.055;0.118;0.118	T	0.59215	-0.7496	10	0.19147	T	0.46	.	9.3198	0.37957	0.0:0.4501:0.4049:0.145	.	376;376;376	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	S	376	ENSP00000441229:G376S;ENSP00000334563:G376S;ENSP00000386096:G376S	ENSP00000334563:G376S	G	+	1	0	MYO18B	24495009	0.027000	0.19231	0.007000	0.13788	0.149000	0.21700	2.366000	0.44204	-0.253000	0.09514	0.491000	0.48974	GGT		0.572	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		4	1	0	0	0	1	0	4	1				
COL6A3	1293	broad.mit.edu	37	2	238283663	238283663	+	Splice_Site	SNP	A	A	T			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr2:238283663A>T	ENST00000295550.4	-	8	3523	c.3071T>A	c.(3070-3072)gTt>gAt	p.V1024D	COL6A3_ENST00000353578.4_Splice_Site_p.V818D|COL6A3_ENST00000392004.3_Splice_Site_p.V818D|COL6A3_ENST00000346358.4_Splice_Site_p.V824D|COL6A3_ENST00000347401.3_Splice_Site_p.V823D|COL6A3_ENST00000409809.1_Splice_Site_p.V818D|COL6A3_ENST00000472056.1_Splice_Site_p.V417D|COL6A3_ENST00000392003.2_Splice_Site_p.V617D	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1024	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCACCTGAAACTGGGAGGAG	0.522																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.e8-1		collagen, type VI, alpha 3							42.0	45.0	44.0					2																	238283663		2203	4300	6503	SO:0001630	splice_region_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238283663A>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3071-1T>A	2.37:g.238283663A>T						COL6A3_ENST00000472056.1_Splice_Site_p.V417_splice|COL6A3_ENST00000392004.3_Splice_Site_p.V818_splice|COL6A3_ENST00000347401.3_Splice_Site_p.V823_splice|COL6A3_ENST00000409809.1_Splice_Site_p.V818_splice|COL6A3_ENST00000392003.2_Splice_Site_p.V617_splice|COL6A3_ENST00000346358.4_Splice_Site_p.V824_splice|COL6A3_ENST00000353578.4_Splice_Site_p.V818_splice	p.V1024_splice	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	8	3523	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1024			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Splice_Site	SNP	ENST00000295550.4	37	c.3070_splice	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	A	5.725	0.318153	0.10845	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;T;T	0.89746	-2.56;-2.53;-2.52;-2.48;-2.52;-2.49;0.02;-0.09	5.33	2.81	0.32909	.	0.413650	0.20012	N	0.101082	T	0.69726	0.3143	N	0.04508	-0.205	0.58432	D	0.999999	B;B;B;B;B	0.16396	0.004;0.0;0.0;0.017;0.003	B;B;B;B;B	0.25614	0.008;0.001;0.003;0.062;0.004	T	0.56739	-0.7929	10	0.11794	T	0.64	.	1.9858	0.03436	0.5844:0.1665:0.0889:0.1602	.	417;617;818;818;1024	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	D	1024;823;818;417;818;824;818;617	ENSP00000295550:V1024D;ENSP00000315609:V823D;ENSP00000315873:V818D;ENSP00000418285:V417D;ENSP00000386844:V818D;ENSP00000295546:V824D;ENSP00000375861:V818D;ENSP00000375860:V617D	ENSP00000295550:V1024D	V	-	2	0	COL6A3	237948402	1.000000	0.71417	0.997000	0.53966	0.725000	0.41563	0.964000	0.29306	0.981000	0.38548	0.533000	0.62120	GTT		0.522	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	Missense_Mutation	5	11	0	0	0	1	0	5	11				
KRTAP12-3	386683	broad.mit.edu	37	21	46077965	46077965	+	Silent	SNP	C	C	T	rs587757920	byFrequency	TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr21:46077965C>T	ENST00000397907.1	+	1	117	c.69C>T	c.(67-69)tcC>tcT	p.S23S	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	23	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCCAGGCATCCTGCTATGTGC	0.672																																						ENST00000397907.1																			0				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(67-69)tcC>tcT		keratin associated protein 12-3							82.0	97.0	92.0					21																	46077965		2188	4263	6451	SO:0001819	synonymous_variant	386683					intermediate filament		g.chr21:46077965C>T	AB076361	CCDS42964.1	21q22.3	2006-03-13			ENSG00000205439	ENSG00000205439		"""Keratin associated proteins"""	20531	protein-coding gene	gene with protein product							Standard	NM_198697		Approved	KRTAP12.3	uc002zft.3	P60328	OTTHUMG00000057630	ENST00000397907.1:c.69C>T	21.37:g.46077965C>T						TSPEAR_ENST00000323084.4_Intron	p.S23S	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN			1	117	+			23			14 X 5 AA approximate repeats.			Silent	SNP	ENST00000397907.1	37	c.69C>T	CCDS42964.1																																																																																				0.672	KRTAP12-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128033.1			34	42	0	0	0	1	0	34	42				
CDKL3	51265	broad.mit.edu	37	5	133648028	133648028	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr5:133648028T>C	ENST00000265334.4	-	7	954	c.836A>G	c.(835-837)gAt>gGt	p.D279G	CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000435211.1_Missense_Mutation_p.D279G|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000609654.1_Missense_Mutation_p.D90G|CDKL3_ENST00000521118.1_Missense_Mutation_p.D279G|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000523054.1_Missense_Mutation_p.D90G|CDKL3_ENST00000609383.1_Intron|CDKL3_ENST00000523832.1_Missense_Mutation_p.D279G|CDKL3_ENST00000536186.1_5'UTR	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	279	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGCAAAAGATCACTAGATGA	0.328																																						ENST00000521118.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11						c.(835-837)gAt>gGt		cyclin-dependent kinase-like 3							52.0	48.0	49.0					5																	133648028		1810	4072	5882	SO:0001583	missense	51265					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr5:133648028T>C	AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"""Cyclin-dependent kinases"""	15483	protein-coding gene	gene with protein product	"""serine-threonine protein kinase NKIAMRE"""	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.836A>G	5.37:g.133648028T>C	ENSP00000265334:p.Asp279Gly					CDKL3_ENST00000435211.1_Missense_Mutation_p.D279G|CDKL3_ENST00000518409.1_Intron|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000536186.1_5'UTR|CDKL3_ENST00000523832.1_Missense_Mutation_p.D279G|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000523054.1_Missense_Mutation_p.D90G|CDKL3_ENST00000265334.4_Missense_Mutation_p.D279G	p.D279G			Q8IVW4	CDKL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	950	-			279			Protein kinase.		D3DQA0|D3DQA1|Q9P114	Missense_Mutation	SNP	ENST00000265334.4	37	c.836A>G	CCDS47264.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.545375	0.65198	.	.	ENSG00000006837	ENST00000265334;ENST00000523054;ENST00000521118;ENST00000523832;ENST00000435211	T;T;T;T;T	0.47177	0.85;2.45;0.85;0.85;0.85	5.65	4.42	0.53409	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.308092	0.27996	N	0.017007	T	0.46112	0.1376	L	0.53780	1.695	0.37618	D	0.921199	P;B;P	0.47545	0.897;0.427;0.565	P;B;B	0.44946	0.465;0.142;0.393	T	0.56408	-0.7984	10	0.59425	D	0.04	-26.3078	10.2692	0.43473	0.0:0.0:0.1657:0.8343	.	90;90;279	B4DX41;B7Z2C5;Q8IVW4	.;.;CDKL3_HUMAN	G	279;90;279;279;279	ENSP00000265334:D279G;ENSP00000428500:D90G;ENSP00000428689:D279G;ENSP00000430496:D279G;ENSP00000395559:D279G	ENSP00000265334:D279G	D	-	2	0	CDKL3	133675927	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.227000	0.51262	2.149000	0.67028	0.482000	0.46254	GAT		0.328	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1	NM_001113575		3	10	0	0	0	1	0	3	10				
TRHR	7201	broad.mit.edu	37	8	110100449	110100449	+	Silent	SNP	T	T	C			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr8:110100449T>C	ENST00000518632.1	+	2	1059	c.708T>C	c.(706-708)aaT>aaC	p.N236N	TRHR_ENST00000311762.2_Silent_p.N236N			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	236					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CATGGAAAAATGATTCAACCC	0.373																																						ENST00000518632.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37						c.(706-708)aaT>aaC		thyrotropin-releasing hormone receptor							56.0	55.0	56.0					8																	110100449		2201	4300	6501	SO:0001819	synonymous_variant	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110100449T>C		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.708T>C	8.37:g.110100449T>C						TRHR_ENST00000311762.2_Silent_p.N236N	p.N236N			P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		2	1059	+			236					Q2M339	Silent	SNP	ENST00000518632.1	37	c.708T>C	CCDS6311.1																																																																																				0.373	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			13	20	0	0	0	1	0	13	20				
FAM179A	165186	broad.mit.edu	37	2	29225514	29225514	+	Silent	SNP	C	C	T			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr2:29225514C>T	ENST00000379558.4	+	5	891	c.540C>T	c.(538-540)agC>agT	p.S180S	FAM179A_ENST00000403861.2_Silent_p.S180S	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	180										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCATCCAGAGCATCCCTACCA	0.662																																						ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(538-540)agC>agT		family with sequence similarity 179, member A							30.0	37.0	35.0					2																	29225514		1996	4164	6160	SO:0001819	synonymous_variant	165186						binding	g.chr2:29225514C>T	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.540C>T	2.37:g.29225514C>T						FAM179A_ENST00000403861.2_Silent_p.S180S	p.S180S	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			5	891	+			180					Q6ZUF5	Silent	SNP	ENST00000379558.4	37	c.540C>T	CCDS1769.2																																																																																				0.662	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		5	9	0	0	0	1	0	5	9				
KIF15	56992	broad.mit.edu	37	3	44847335	44847335	+	Splice_Site	SNP	A	A	G			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr3:44847335A>G	ENST00000326047.4	+	16	1978		c.e16-1		KIF15_ENST00000425755.1_Splice_Site	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AATATCTATTAGGAAAAGGCA	0.343																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.e16-1		kinesin family member 15							103.0	122.0	116.0					3																	44847335		2202	4300	6502	SO:0001630	splice_region_variant	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44847335A>G	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.1830-1A>G	3.37:g.44847335A>G						KIF15_ENST00000425755.1_Splice_Site		NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	16	1978	+								Q17RV9|Q69YL6|Q96JX7|Q9H280	Splice_Site	SNP	ENST00000326047.4	37		CCDS33744.1	.	.	.	.	.	.	.	.	.	.	A	19.69	3.875290	0.72180	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5304	0.75956	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF15	44822339	1.000000	0.71417	0.974000	0.42286	0.834000	0.47266	8.665000	0.91144	2.133000	0.65898	0.533000	0.62120	.		0.343	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2		Intron	9	69	0	0	0	1	0	9	69				
PHRF1	57661	broad.mit.edu	37	11	605191	605191	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr11:605191C>T	ENST00000264555.5	+	11	1353	c.1225C>T	c.(1225-1227)Ccg>Tcg	p.P409S	PHRF1_ENST00000533464.1_Missense_Mutation_p.P405S|PHRF1_ENST00000413872.2_Missense_Mutation_p.P408S|PHRF1_ENST00000416188.2_Missense_Mutation_p.P409S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	409					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CAGCTGCATCCCGTCAGTGTT	0.557																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(1225-1227)Ccg>Tcg		PHD and ring finger domains 1							51.0	56.0	54.0					11																	605191		2069	4209	6278	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:605191C>T	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1225C>T	11.37:g.605191C>T	ENSP00000264555:p.Pro409Ser					PHRF1_ENST00000413872.2_Missense_Mutation_p.P408S|PHRF1_ENST00000416188.2_Missense_Mutation_p.P409S|PHRF1_ENST00000533464.1_Missense_Mutation_p.P405S	p.P409S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			11	1353	+			409					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.1225C>T		.	.	.	.	.	.	.	.	.	.	C	16.00	2.997192	0.54147	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.83591	-1.72;-1.74;-1.71;-1.71	4.65	4.65	0.58169	.	0.000000	0.37955	N	0.001880	D	0.89591	0.6759	M	0.70275	2.135	0.47407	D	0.999413	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.77557	0.978;0.99;0.99;0.978	D	0.90443	0.4433	10	0.72032	D	0.01	-15.3045	13.4536	0.61184	0.0:0.8428:0.1571:0.0	.	405;408;409;409	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	S	409;408;409;405	ENSP00000264555:P409S;ENSP00000388589:P408S;ENSP00000410626:P409S;ENSP00000431870:P405S	ENSP00000264555:P409S	P	+	1	0	PHRF1	595191	1.000000	0.71417	0.374000	0.26016	0.005000	0.04900	7.014000	0.76380	2.398000	0.81561	0.563000	0.77884	CCG		0.557	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		21	25	0	0	0	1	0	21	25				
CKAP5	9793	broad.mit.edu	37	11	46791574	46791574	+	Silent	SNP	G	G	A			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr11:46791574G>A	ENST00000529230.1	-	26	3307	c.3261C>T	c.(3259-3261)ccC>ccT	p.P1087P	CKAP5_ENST00000354558.3_Silent_p.P1087P|CKAP5_ENST00000415402.1_Silent_p.P1087P|CKAP5_ENST00000312055.5_Silent_p.P1087P			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1087					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TTGCTTTAGTGGGTGGAGCAG	0.448																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(3259-3261)ccC>ccT		cytoskeleton associated protein 5							181.0	168.0	172.0					11																	46791574		2201	4299	6500	SO:0001819	synonymous_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46791574G>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.3261C>T	11.37:g.46791574G>A						CKAP5_ENST00000312055.5_Silent_p.P1087P|CKAP5_ENST00000354558.3_Silent_p.P1087P|CKAP5_ENST00000415402.1_Silent_p.P1087P	p.P1087P			Q14008	CKAP5_HUMAN			26	3307	-			1087					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	37	c.3261C>T	CCDS31477.1																																																																																				0.448	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		30	44	0	0	0	1	0	30	44				
NCKAP1L	3071	broad.mit.edu	37	12	54917726	54917726	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr12:54917726G>C	ENST00000293373.6	+	20	2221	c.2142G>C	c.(2140-2142)gaG>gaC	p.E714D	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E664D	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	714					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GCCACCTGGAGGCCAGACTCA	0.443																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(2140-2142)gaG>gaC		NCK-associated protein 1-like							130.0	118.0	122.0					12																	54917726		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54917726G>C	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2142G>C	12.37:g.54917726G>C	ENSP00000293373:p.Glu714Asp					NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E664D	p.E714D	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			20	2221	+			714					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.2142G>C	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730269	0.69074	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.35048	1.33;1.33	5.16	-0.00244	0.14030	.	0.000000	0.85682	D	0.000000	T	0.54935	0.1889	M	0.81497	2.545	0.45995	D	0.998802	D	0.69078	0.997	D	0.79108	0.992	T	0.52668	-0.8545	10	0.41790	T	0.15	-19.6491	9.6496	0.39888	0.4141:0.0:0.5859:0.0	.	714	P55160	NCKPL_HUMAN	D	714;664	ENSP00000293373:E714D;ENSP00000445596:E664D	ENSP00000293373:E714D	E	+	3	2	NCKAP1L	53203993	0.999000	0.42202	0.995000	0.50966	0.950000	0.60333	1.197000	0.32211	0.019000	0.15079	-0.123000	0.14984	GAG		0.443	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		18	34	0	0	0	1	0	18	34				
RSBN1	54665	broad.mit.edu	37	1	114354414	114354414	+	Silent	SNP	G	G	A	rs147797898		TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr1:114354414G>A	ENST00000261441.5	-	1	684	c.621C>T	c.(619-621)tgC>tgT	p.C207C	RP5-1073O3.2_ENST00000418238.1_RNA|RP5-1073O3.2_ENST00000429398.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	207						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATCGGTTCCGCAGGAGCTGG	0.632																																						ENST00000261441.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29						c.(619-621)tgC>tgT		round spermatid basic protein 1		G		0,4406		0,0,2203	97.0	84.0	88.0		621	3.3	1.0	1	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RSBN1	NM_018364.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		207/803	114354414	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54665					nucleus		g.chr1:114354414G>A	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.621C>T	1.37:g.114354414G>A							p.C207C	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	684	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	207					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	c.621C>T	CCDS862.1																																																																																				0.632	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		5	20	0	0	0	1	0	5	20				
MTR	4548	broad.mit.edu	37	1	237054510	237054510	+	Missense_Mutation	SNP	C	C	T	rs139771804		TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr1:237054510C>T	ENST00000366577.5	+	29	3479	c.3085C>T	c.(3085-3087)Cgg>Tgg	p.R1029W	MTR_ENST00000535889.1_Missense_Mutation_p.R978W	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1029	AdoMet activation. {ECO:0000255|PROSITE- ProRule:PRU00346}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	ACTCCGGGCCCGGGGTGTGGT	0.522																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(3085-3087)Cgg>Tgg		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	C	TRP/ARG	0,4406		0,0,2203	101.0	108.0	106.0		3085	-1.9	1.0	1	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	missense	MTR	NM_000254.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1029/1266	237054510	1,13005	2203	4300	6503	SO:0001583	missense	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237054510C>T	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.3085C>T	1.37:g.237054510C>T	ENSP00000355536:p.Arg1029Trp					MTR_ENST00000535889.1_Missense_Mutation_p.R978W	p.R1029W	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	29	3479	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	1029			AdoMet activation.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	c.3085C>T	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858805	0.71834	0.0	1.16E-4	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	T;T;T	0.79653	-1.29;-1.29;-1.29	5.48	-1.91	0.07641	Vitamin B12-dependent methionine synthase, activation domain (3);	0.165190	0.49916	D	0.000131	D	0.87830	0.6276	M	0.87758	2.905	0.37278	D	0.907722	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.58577	0.841;0.841;0.841	D	0.89966	0.4090	10	0.87932	D	0	-10.6896	16.3981	0.83630	0.4283:0.5717:0.0:0.0	.	1029;978;1029	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	W	883;1029;978;583	ENSP00000355536:R1029W;ENSP00000441845:R978W;ENSP00000355535:R583W	ENSP00000355535:R583W	R	+	1	2	MTR	235121133	1.000000	0.71417	0.962000	0.40283	0.688000	0.40055	1.640000	0.37186	-0.604000	0.05760	-1.383000	0.01170	CGG		0.522	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		20	73	0	0	0	1	0	20	73				
SLC44A1	23446	broad.mit.edu	37	9	108128699	108128699	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr9:108128699T>A	ENST00000374720.3	+	12	1730	c.1483T>A	c.(1483-1485)Tat>Aat	p.Y495N	SLC44A1_ENST00000374724.1_Missense_Mutation_p.Y495N|SLC44A1_ENST00000343170.7_Missense_Mutation_p.Y287N|SLC44A1_ENST00000374723.1_Missense_Mutation_p.Y495N	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	495					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GTGCCTAAATTATTTAAATCA	0.299																																						ENST00000374720.3																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1483-1485)Tat>Aat		solute carrier family 44 (choline transporter), member 1	Choline(DB00122)						46.0	46.0	46.0					9																	108128699		2203	4298	6501	SO:0001583	missense	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108128699T>A	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1483T>A	9.37:g.108128699T>A	ENSP00000363852:p.Tyr495Asn					SLC44A1_ENST00000374724.1_Missense_Mutation_p.Y495N|SLC44A1_ENST00000343170.7_Missense_Mutation_p.Y287N|SLC44A1_ENST00000374723.1_Missense_Mutation_p.Y495N	p.Y495N	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN			12	1730	+			495					A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	c.1483T>A	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.621855	0.87460	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	M	0.85462	2.755	0.80722	D	1	D;D;D	0.89917	0.992;0.992;1.0	D;D;D	0.97110	0.948;0.948;1.0	T	0.63629	-0.6594	10	0.72032	D	0.01	-15.8992	16.0048	0.80354	0.0:0.0:0.0:1.0	.	495;495;495	Q8WWI5-3;Q8WWI5-2;Q8WWI5	.;.;CTL1_HUMAN	N	495;495;495;287	ENSP00000363855:Y495N;ENSP00000363852:Y495N;ENSP00000363856:Y495N;ENSP00000341856:Y287N	ENSP00000341856:Y287N	Y	+	1	0	SLC44A1	107168520	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.538000	0.82048	2.237000	0.73441	0.528000	0.53228	TAT		0.299	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		18	16	0	0	0	1	0	18	16				
SIX4	51804	broad.mit.edu	37	14	61190752	61190752	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr14:61190752G>T	ENST00000216513.4	-	1	100	c.41C>A	c.(40-42)gCg>gAg	p.A14E		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	14					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		CTTGATGTCCGCCGCACTTGC	0.607																																						ENST00000216513.4																			0				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(40-42)gCg>gAg		SIX homeobox 4							79.0	87.0	85.0					14																	61190752		2175	4277	6452	SO:0001583	missense	51804					nucleus		g.chr14:61190752G>T	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.41C>A	14.37:g.61190752G>T	ENSP00000216513:p.Ala14Glu						p.A14E	NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	1	100	-			14					Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	c.41C>A	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	g	15.37	2.812838	0.50527	.	.	ENSG00000100625	ENST00000216513;ENST00000556952	D	0.92752	-3.1	3.16	1.2	0.21068	.	3.165320	0.01869	U	0.037105	T	0.81992	0.4940	N	0.08118	0	0.24214	N	0.995466	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.71331	-0.4625	10	0.31617	T	0.26	.	2.4893	0.04606	0.2433:0.0:0.2578:0.4989	.	6;14	G3V2N2;Q9UIU6	.;SIX4_HUMAN	E	14;6	ENSP00000216513:A14E	ENSP00000216513:A14E	A	-	2	0	SIX4	60260505	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.866000	0.39489	0.625000	0.30304	0.290000	0.19541	GCG		0.607	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			23	42	1	0	4.59853e-10	1	4.70802e-10	23	42				
PSG8	440533	broad.mit.edu	37	19	43262332	43262332	+	Silent	SNP	G	G	A			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr19:43262332G>A	ENST00000306511.4	-	3	628	c.531C>T	c.(529-531)agC>agT	p.S177S	PSG8_ENST00000404209.4_Silent_p.S177S|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Silent_p.S55S|PSG8_ENST00000401467.2_Intron	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	177	Ig-like C2-type 1.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ACCACAGGTAGCTTGCGTCCG	0.527																																						ENST00000404209.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(529-531)agC>agT		pregnancy specific beta-1-glycoprotein 8							230.0	235.0	233.0					19																	43262332		2203	4297	6500	SO:0001819	synonymous_variant	440533					extracellular region		g.chr19:43262332G>A	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.531C>T	19.37:g.43262332G>A						PSG8_ENST00000401467.2_Intron|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Silent_p.S55S|PSG8_ENST00000306511.4_Silent_p.S177S	p.S177S	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			3	627	-		Prostate(69;0.00899)	177			Ig-like C2-type 1.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Silent	SNP	ENST00000306511.4	37	c.531C>T	CCDS33037.1																																																																																				0.527	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			5	246	0	0	0	1	0	5	246				
VIT	5212	broad.mit.edu	37	2	36982171	36982171	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr2:36982171G>A	ENST00000389975.3	+	5	685	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	VIT_ENST00000457137.2_Missense_Mutation_p.R128Q|VIT_ENST00000401530.1_Missense_Mutation_p.R128Q|VIT_ENST00000404084.1_Missense_Mutation_p.R106Q|VIT_ENST00000497382.1_De_novo_Start_OutOfFrame|VIT_ENST00000379241.3_Missense_Mutation_p.R128Q|VIT_ENST00000379242.3_Missense_Mutation_p.R128Q	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	128	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TCCCTACCACGATGGAGAGAA	0.443																																						ENST00000497382.1																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57								vitrin							141.0	121.0	128.0					2																	36982171		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:36982171G>A	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.383G>A	2.37:g.36982171G>A	ENSP00000374625:p.Arg128Gln					VIT_ENST00000457137.2_Missense_Mutation_p.R128Q|VIT_ENST00000404084.1_Missense_Mutation_p.R106Q|VIT_ENST00000379242.3_Missense_Mutation_p.R128Q|VIT_ENST00000379241.3_Missense_Mutation_p.R128Q|VIT_ENST00000389975.3_Missense_Mutation_p.R128Q|VIT_ENST00000401530.1_Missense_Mutation_p.R128Q				Q6UXI7	VITRN_HUMAN			0	570	+		all_hematologic(82;0.248)						A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Translation_Start_Site	SNP	ENST00000389975.3	37		CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.223858	0.79576	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000402257;ENST00000457137;ENST00000404084;ENST00000379241;ENST00000401530	D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	5.63	5.63	0.86233	LCCL (4);	0.205105	0.42548	D	0.000692	D	0.90700	0.7082	N	0.20881	0.62	0.40950	D	0.984533	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999;1.0	D;D;D;D;D;D	0.69142	0.939;0.962;0.937;0.932;0.937;0.953	D	0.91892	0.5524	10	0.59425	D	0.04	-11.4084	19.3046	0.94155	0.0:0.0:1.0:0.0	.	128;128;128;128;128;128	B4DRU4;E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4;Q6UXI7-3	.;.;.;VITRN_HUMAN;.;.	Q	128;128;128;128;106;128;128	ENSP00000368544:R128Q;ENSP00000374625:R128Q;ENSP00000393561:R128Q;ENSP00000384154:R106Q;ENSP00000368543:R128Q;ENSP00000385658:R128Q	ENSP00000368543:R128Q	R	+	2	0	VIT	36835675	0.998000	0.40836	0.922000	0.36590	0.368000	0.29767	4.666000	0.61554	2.652000	0.90054	0.655000	0.94253	CGA		0.443	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				3	42	0	0	0	1	0	3	42				
SEMG2	6407	broad.mit.edu	37	20	43850691	43850691	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr20:43850691C>A	ENST00000372769.3	+	2	508	c.418C>A	c.(418-420)Caa>Aaa	p.Q140K		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	140	Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TCATGGGACACAAAATCCTTC	0.388																																						ENST00000372769.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(418-420)Caa>Aaa		semenogelin II							104.0	93.0	96.0					20																	43850691		2203	4300	6503	SO:0001583	missense	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43850691C>A		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.418C>A	20.37:g.43850691C>A	ENSP00000361855:p.Gln140Lys						p.Q140K	NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN			2	508	+		Myeloproliferative disorder(115;0.0122)	140			Repeat-rich region.		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	c.418C>A	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725720	0.30593	.	.	ENSG00000124157	ENST00000372769	T	0.11063	2.81	1.2	1.2	0.21068	.	.	.	.	.	T	0.26268	0.0641	M	0.73217	2.22	0.09310	N	1	P;D;D	0.59357	0.932;0.985;0.985	D;D;D	0.73708	0.949;0.981;0.981	T	0.04041	-1.0982	9	0.87932	D	0	.	5.7752	0.18275	0.0:1.0:0.0:0.0	.	140;140;140	A8K6Z6;Q6IRW3;Q02383	.;.;SEMG2_HUMAN	K	140	ENSP00000361855:Q140K	ENSP00000361855:Q140K	Q	+	1	0	SEMG2	43284105	0.003000	0.15002	0.028000	0.17463	0.004000	0.04260	-0.680000	0.05197	0.956000	0.37904	0.655000	0.94253	CAA		0.388	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		29	44	1	0	1.77063e-15	1	1.857e-15	29	44				
SIX4	51804	broad.mit.edu	37	14	61190753	61190753	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr14:61190753C>T	ENST00000216513.4	-	1	99	c.40G>A	c.(40-42)Gcg>Acg	p.A14T		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	14					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TTGATGTCCGCCGCACTTGCG	0.607																																						ENST00000216513.4																			0				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(40-42)Gcg>Acg		SIX homeobox 4							79.0	87.0	85.0					14																	61190753		2175	4278	6453	SO:0001583	missense	51804					nucleus		g.chr14:61190753C>T	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.40G>A	14.37:g.61190753C>T	ENSP00000216513:p.Ala14Thr						p.A14T	NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	1	99	-			14					Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	c.40G>A	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	c	15.79	2.937628	0.52972	.	.	ENSG00000100625	ENST00000216513;ENST00000556952	D	0.92595	-3.07	3.16	2.26	0.28386	.	3.165320	0.01869	U	0.037105	D	0.83454	0.5258	N	0.08118	0	0.23249	N	0.998049	B;B	0.19817	0.039;0.039	B;B	0.14023	0.01;0.007	T	0.72606	-0.4242	10	0.23891	T	0.37	.	7.3647	0.26766	0.0:0.7033:0.0:0.2967	.	6;14	G3V2N2;Q9UIU6	.;SIX4_HUMAN	T	14;6	ENSP00000216513:A14T	ENSP00000216513:A14T	A	-	1	0	SIX4	60260506	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.862000	0.39448	0.674000	0.31244	0.290000	0.19541	GCG		0.607	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2			22	42	0	0	0	1	0	22	42				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	55	0	0	0	1	0	4	55				
ANKRD27	84079	broad.mit.edu	37	19	33113510	33113510	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr19:33113510C>G	ENST00000306065.4	-	18	1803	c.1645G>C	c.(1645-1647)Gtt>Ctt	p.V549L		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	549					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TCGTAGTAAACCAGAGCCTTC	0.547																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(1645-1647)Gtt>Ctt		ankyrin repeat domain 27 (VPS9 domain)							128.0	110.0	116.0					19																	33113510		2203	4300	6503	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33113510C>G	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1645G>C	19.37:g.33113510C>G	ENSP00000304292:p.Val549Leu						p.V549L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			18	1803	-	Esophageal squamous(110;0.137)		549					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.1645G>C	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939617	0.52972	.	.	ENSG00000105186	ENST00000306065	T	0.56776	0.44	5.31	5.31	0.75309	Ankyrin repeat-containing domain (3);	0.246207	0.28130	N	0.016485	T	0.26304	0.0642	N	0.00894	-1.105	0.80722	D	1	B	0.28713	0.22	B	0.30495	0.116	T	0.29640	-1.0005	10	0.10636	T	0.68	-15.6216	19.3213	0.94240	0.0:1.0:0.0:0.0	.	549	Q96NW4	ANR27_HUMAN	L	549	ENSP00000304292:V549L	ENSP00000304292:V549L	V	-	1	0	ANKRD27	37805350	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.307000	0.78920	2.645000	0.89757	0.655000	0.94253	GTT		0.547	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		3	57	0	0	0	1	0	3	57				
KIF1A	547	broad.mit.edu	37	2	241702149	241702151	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr2:241702149_241702151delCTC	ENST00000320389.7	-	22	2232_2234	c.2074_2076delGAG	c.(2074-2076)gagdel	p.E692del	KIF1A_ENST00000498729.2_In_Frame_Del_p.E701del	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	692					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CATCCTCGGGCTCCTCCTCCTCC	0.621																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(2101-2103)del		kinesin family member 1A																																				SO:0001651	inframe_deletion	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241702149_241702151delCTC	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2074_2076delGAG	2.37:g.241702158_241702160delCTC	ENSP00000322791:p.Glu692del					KIF1A_ENST00000320389.7_In_Frame_Del_p.E692del	p.E701del	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	23	2347_2349	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	692					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	In_Frame_Del	DEL	ENST00000320389.7	37	c.2101_2103delGAG	CCDS46561.1																																																																																				0.621	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		3	6						3	6	---	---	---	---
RBPMS	11030	broad.mit.edu	37	8	30402178	30402180	+	Intron	DEL	CAC	CAC	-			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr8:30402178_30402180delCAC	ENST00000320203.4	+	6	1110				RBPMS_ENST00000397323.4_Intron|RBPMS_ENST00000520161.1_Intron|RBPMS_ENST00000339877.4_Intron|RBPMS_ENST00000538486.1_Intron|RBPMS_ENST00000517860.1_In_Frame_Del_p.H190del|RBPMS_ENST00000519647.1_Intron|RBPMS_ENST00000287771.5_Intron|RBPMS_ENST00000520191.1_In_Frame_Del_p.H86del	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing						positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		TCACTCACTTCACCACCAGTCCT	0.502																																						ENST00000520191.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(253-255)del		RNA binding protein with multiple splicing																																				SO:0001627	intron_variant	11030				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity	g.chr8:30402178_30402180delCAC	D84110	CCDS6077.1, CCDS34875.1, CCDS34876.1	8p12	2013-06-07			ENSG00000157110	ENSG00000157110		"""RNA binding motif (RRM) containing"""	19097	protein-coding gene	gene with protein product		601558				8855282	Standard	NM_001008710		Approved	HERMES	uc003xib.3	Q93062	OTTHUMG00000163845	ENST00000320203.4:c.528+37CAC>-	8.37:g.30402181_30402183delCAC						RBPMS_ENST00000320203.4_Intron|RBPMS_ENST00000287771.5_Intron|RBPMS_ENST00000397323.4_Intron|RBPMS_ENST00000520161.1_Intron|RBPMS_ENST00000519647.1_Intron|RBPMS_ENST00000517860.1_In_Frame_Del_p.H190del|RBPMS_ENST00000339877.4_Intron|RBPMS_ENST00000538486.1_Intron	p.H86del			Q93062	RBPMS_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)	6	683_685	+			0			RRM.		D3DSU9|Q92516|Q92517|Q92518|Q96J26	In_Frame_Del	DEL	ENST00000320203.4	37	c.253_255delCAC	CCDS6077.1																																																																																				0.502	RBPMS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376357.2			27	30						27	30	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133220099	133220100	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr12:133220099_133220100delCA	ENST00000320574.5	-	34	4380_4381	c.4337_4338delTG	c.(4336-4338)gtgfs	p.V1447fs	POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1447					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GTTTATTGACCACACACACACA	0.604								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4336-4338)gfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit																																				SO:0001589	frameshift_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133220099_133220100delCA		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4337_4338delTG	12.37:g.133220109_133220110delCA	ENSP00000322570:p.Val1447fs					POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs	p.V1447fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	34	4380_4381	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1447					Q13533|Q86VH9	Frame_Shift_Del	DEL	ENST00000320574.5	37	c.4337_4338delTG	CCDS9278.1																																																																																				0.604	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		7	168						7	168	---	---	---	---
FAM155A	728215	broad.mit.edu	37	13	108518687	108518689	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr13:108518687_108518689delCTG	ENST00000375915.2	-	1	394_396	c.256_258delCAG	c.(256-258)cagdel	p.Q86del		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	86	Poly-Gln.					integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						gccgctgcctctgctgctgctgc	0.719																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(256-258)del		family with sequence similarity 155, member A																																				SO:0001651	inframe_deletion	728215					integral to membrane	binding	g.chr13:108518687_108518689delCTG	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.256_258delCAG	13.37:g.108518696_108518698delCTG	ENSP00000365080:p.Gln86del						p.Q86del	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	394_396	-			86			Poly-Gln.		B2RUV1|B7Z334	In_Frame_Del	DEL	ENST00000375915.2	37	c.256_258delCAG	CCDS32006.1																																																																																				0.719	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		7	26						7	26	---	---	---	---
LOC645752	645752	broad.mit.edu	37	15	78217568	78217569	+	RNA	INS	-	-	A			TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr15:78217568_78217569insA	ENST00000567226.1	-	0	105																											ATATTATGGCTAAAAAAAAAGT	0.426																																						ENST00000567226.1																			0																																																			645752							g.chr15:78217568_78217569insA																													15.37:g.78217577_78217577dupA														0	105	-									RNA	INS	ENST00000567226.1	37																																																																																						0.426	RP11-114H24.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000421586.1			2	4						2	4	---	---	---	---
IL9RP3	729486	broad.mit.edu	37	16	81973	81974	+	RNA	INS	-	-	GTCC	rs369213970	byFrequency	TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr16:81973_81974insGTCC	ENST00000568710.1	-	0	349																											ATCAGCAGGAGGCCCACCTCGT	0.614														377	0.0752796	0.2057	0.049	5008	,	,		9104	0.003		0.0437	False		,,,				2504	0.0245					ENST00000568710.1																			0																																																			729486							g.chr16:81973_81974insGTCC																													16.37:g.81973_81974insGTCC														0	349	-									RNA	INS	ENST00000568710.1	37																																																																																						0.614	Z84812.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000420570.1			4	5						4	5	---	---	---	---
MYH14	79784	broad.mit.edu	37	19	50771562	50771564	+	In_Frame_Del	DEL	GAG	GAG	-	rs367588704		TCGA-QR-A70P-01A-11D-A35D-08	TCGA-QR-A70P-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857459e5-c09d-4ae3-b2e6-f7945e943573	b41e573f-9738-41d3-b8b4-94dc2b98514d	g.chr19:50771562_50771564delGAG	ENST00000596571.1	+	21	2848_2850	c.2848_2850delGAG	c.(2848-2850)gagdel	p.E953del	MYH14_ENST00000262269.8_In_Frame_Del_p.E994del|MYH14_ENST00000440075.2_In_Frame_Del_p.E994del|MYH14_ENST00000601313.1_In_Frame_Del_p.E994del|MYH14_ENST00000376970.2_In_Frame_Del_p.E986del|MYH14_ENST00000598205.1_In_Frame_Del_p.E961del|MYH14_ENST00000425460.1_In_Frame_Del_p.E961del			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	953					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCGCGTGGGCGAGGAGGAGGAGT	0.655																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2971-2973)del		myosin, heavy chain 14, non-muscle																																				SO:0001651	inframe_deletion	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50771562_50771564delGAG	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.2848_2850delGAG	19.37:g.50771571_50771573delGAG	ENSP00000472819:p.Glu953del					MYH14_ENST00000262269.8_In_Frame_Del_p.E994del|MYH14_ENST00000376970.2_In_Frame_Del_p.E986del|MYH14_ENST00000601313.1_In_Frame_Del_p.E994del|MYH14_ENST00000598205.1_In_Frame_Del_p.E961del|MYH14_ENST00000596571.1_In_Frame_Del_p.E953del|MYH14_ENST00000425460.1_In_Frame_Del_p.E961del	p.E994del			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	24	3018_3020	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	953					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	In_Frame_Del	DEL	ENST00000596571.1	37	c.2971_2973delGAG	CCDS59411.1																																																																																				0.655	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		2	4						2	4	---	---	---	---
