#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
ANKRD50	57182	broad.mit.edu	37	4	125590881	125590881	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr4:125590881A>G	ENST00000504087.1	-	4	4588	c.3551T>C	c.(3550-3552)cTg>cCg	p.L1184P	ANKRD50_ENST00000515641.1_Missense_Mutation_p.L1005P	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1184	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TGAGCTTTTCAGGGAATTATT	0.393																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(3550-3552)cTg>cCg		ankyrin repeat domain 50							85.0	88.0	87.0					4																	125590881		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125590881A>G	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3551T>C	4.37:g.125590881A>G	ENSP00000425658:p.Leu1184Pro					ANKRD50_ENST00000515641.1_Missense_Mutation_p.L1005P	p.L1184P	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	4588	-			1184			Ser-rich.		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.3551T>C	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.379253	0.61735	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.70282	-0.47;-0.44	5.29	5.29	0.74685	.	0.073924	0.53938	D	0.000042	T	0.64483	0.2602	N	0.14661	0.345	0.80722	D	1	D	0.55385	0.971	P	0.52159	0.691	T	0.65545	-0.6142	10	0.33141	T	0.24	.	15.3955	0.74790	1.0:0.0:0.0:0.0	.	1184	Q9ULJ7	ANR50_HUMAN	P	1184;1005	ENSP00000425658:L1184P;ENSP00000425355:L1005P	ENSP00000425658:L1184P	L	-	2	0	ANKRD50	125810331	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	8.571000	0.90752	2.225000	0.72522	0.459000	0.35465	CTG		0.393	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		4	159	0	0	0	1	0	4	159				
ZBTB11	27107	broad.mit.edu	37	3	101384637	101384637	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr3:101384637C>T	ENST00000312938.4	-	4	1374	c.794G>A	c.(793-795)aGc>aAc	p.S265N		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	265	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGGAAGGAAGCTGGCCTTACA	0.323																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(793-795)aGc>aAc		zinc finger and BTB domain containing 11							52.0	53.0	53.0					3																	101384637		2203	4299	6502	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101384637C>T	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.794G>A	3.37:g.101384637C>T	ENSP00000326200:p.Ser265Asn						p.S265N	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			4	1374	-			265			BTB.		Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.794G>A	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455895	0.84209	.	.	ENSG00000066422	ENST00000312938	T	0.68765	-0.35	5.82	5.82	0.92795	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.79227	0.4410	L	0.47016	1.485	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79633	-0.1722	10	0.87932	D	0	-10.6613	20.093	0.97828	0.0:1.0:0.0:0.0	.	265	O95625	ZBT11_HUMAN	N	265	ENSP00000326200:S265N	ENSP00000326200:S265N	S	-	2	0	ZBTB11	102867327	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.487000	0.81328	2.756000	0.94617	0.561000	0.74099	AGC		0.323	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		34	61	0	0	0	1	0	34	61				
CBWD3	445571	broad.mit.edu	37	9	70871889	70871889	+	Silent	SNP	C	C	T			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding (GO:0005524)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294																																						ENST00000360171.6																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(481-483)taC>taT		COBW domain containing 3																																				SO:0001819	synonymous_variant	445571						ATP binding	g.chr9:70871889C>T	BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873			18519	protein-coding gene	gene with protein product		611080				15233989, 12421752	Standard	XM_005277637		Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.483C>T	9.37:g.70871889C>T						CBWD3_ENST00000377342.5_Intron	p.Y161Y	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN		all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)	5	1034	+			161					B4DNG9|Q6VB91	Silent	SNP	ENST00000360171.6	37	c.483C>T	CCDS35038.1																																																																																				0.294	CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052526.1	NM_201453		4	122	0	0	0	1	0	4	122				
ZNF597	146434	broad.mit.edu	37	16	3486744	3486744	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr16:3486744C>T	ENST00000301744.4	-	4	1190	c.955G>A	c.(955-957)Gac>Aac	p.D319N		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	319					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						GAGTCCTCGTCGTGGCTCTTC	0.502																																						ENST00000301744.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						c.(955-957)Gac>Aac		zinc finger protein 597							71.0	66.0	68.0					16																	3486744		2197	4300	6497	SO:0001583	missense	146434				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3486744C>T	AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"""Zinc fingers, C2H2-type"", ""-"""	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.955G>A	16.37:g.3486744C>T	ENSP00000301744:p.Asp319Asn					LA16c-306E5.2_ENST00000575785.1_RNA	p.D319N	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN			4	1190	-			319						Missense_Mutation	SNP	ENST00000301744.4	37	c.955G>A	CCDS10505.1	.	.	.	.	.	.	.	.	.	.	C	8.754	0.921980	0.17982	.	.	ENSG00000167981	ENST00000301744	T	0.07021	3.23	4.2	-4.45	0.03546	.	1.373330	0.05123	N	0.491168	T	0.03564	0.0102	N	0.03983	-0.305	0.09310	N	1	B	0.17852	0.024	B	0.15870	0.014	T	0.44892	-0.9298	10	0.72032	D	0.01	0.1757	5.1527	0.15019	0.0:0.4086:0.2764:0.315	.	319	Q96LX8	ZN597_HUMAN	N	319	ENSP00000301744:D319N	ENSP00000301744:D319N	D	-	1	0	ZNF597	3426745	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.129000	0.10515	-0.979000	0.03529	-0.355000	0.07637	GAC		0.502	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251511.2	NM_152457		8	96	0	0	0	1	0	8	96				
FRG1B	284802	broad.mit.edu	37	20	29625971	29625971	+	Missense_Mutation	SNP	C	C	A	rs145033899		TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr20:29625971C>A	ENST00000278882.3	+	5	595	c.215C>A	c.(214-216)cCa>cAa	p.P72Q	FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q|FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	72										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CAATGGGAACCAGTCTTTCAA	0.328																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(214-216)cCa>cAa																																						SO:0001583	missense	0							g.chr20:29625971C>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.215C>A	20.37:g.29625971C>A	ENSP00000278882:p.Pro72Gln					FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q|FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q	p.P72Q							5	595	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.215C>A		.	.	.	.	.	.	.	.	.	.	c	12.14	1.847531	0.32606	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49720	0.77	1.68	1.68	0.24146	.	0.112402	0.64402	D	0.000009	T	0.63271	0.2497	.	.	.	0.49483	D	0.999795	D	0.63046	0.992	D	0.79784	0.993	T	0.65948	-0.6044	9	0.66056	D	0.02	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	77	F5H5R5	.	Q	72;77;72	ENSP00000408863:P77Q	ENSP00000278882:P72Q	P	+	2	0	FRG1B	28239632	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CCA		0.328	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	169	1	0	0.0215528	1	0.0215528	5	169				
ZNF786	136051	broad.mit.edu	37	7	148767777	148767777	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr7:148767777C>T	ENST00000491431.1	-	4	2151	c.2087G>A	c.(2086-2088)gGc>gAc	p.G696D	ZNF786_ENST00000451334.3_Missense_Mutation_p.G659D|ZNF786_ENST00000316286.9_Missense_Mutation_p.G610D	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	696					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGTGTGCAGGCCCTGATGGCT	0.587																																						ENST00000316286.9																			0				breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26						c.(1828-1830)gGc>gAc		zinc finger protein 786							93.0	102.0	99.0					7																	148767777		2114	4245	6359	SO:0001583	missense	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148767777C>T	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.2087G>A	7.37:g.148767777C>T	ENSP00000417470:p.Gly696Asp					ZNF786_ENST00000451334.3_Missense_Mutation_p.G659D|ZNF786_ENST00000491431.1_Missense_Mutation_p.G696D	p.G610D			Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	2101	-	Melanoma(164;0.15)		696					A1A568|B4DMI1	Missense_Mutation	SNP	ENST00000491431.1	37	c.1829G>A	CCDS47738.1	.	.	.	.	.	.	.	.	.	.	C	7.823	0.718208	0.15372	.	.	ENSG00000197362	ENST00000316286;ENST00000491431;ENST00000451334	T;T;T	0.18016	2.24;2.24;2.24	4.56	3.6	0.41247	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35805	N	0.002976	T	0.17619	0.0423	N	0.16567	0.415	0.09310	N	0.999994	D	0.60575	0.988	P	0.53988	0.739	T	0.03784	-1.1004	10	0.87932	D	0	-23.6084	11.572	0.50839	0.1892:0.8108:0.0:0.0	.	696	Q8N393	ZN786_HUMAN	D	610;696;659	ENSP00000313516:G610D;ENSP00000417470:G696D;ENSP00000404984:G659D	ENSP00000313516:G610D	G	-	2	0	ZNF786	148398710	0.000000	0.05858	0.782000	0.31804	0.009000	0.06853	0.199000	0.17237	2.378000	0.81104	0.655000	0.94253	GGC		0.587	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		17	278	0	0	0	1	0	17	278				
CEP170B	283638	broad.mit.edu	37	14	105350539	105350539	+	Missense_Mutation	SNP	C	C	T	rs373443985		TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr14:105350539C>T	ENST00000414716.3	+	9	1651	c.1423C>T	c.(1423-1425)Cgg>Tgg	p.R475W	CEP170B_ENST00000453495.1_Missense_Mutation_p.R476W|CEP170B_ENST00000556508.1_Missense_Mutation_p.R405W|CEP170B_ENST00000418279.1_Missense_Mutation_p.R405W	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	475						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GACAGAGGAACGGCTGGGCAG	0.736																																						ENST00000453495.1																			0											c.(1426-1428)Cgg>Tgg		centrosomal protein 170B		C	TRP/ARG,TRP/ARG	2,3338		0,2,1668	4.0	7.0	6.0		1423,1213	4.1	1.0	14		6	1,7387		0,1,3693	no	missense,missense	KIAA0284	NM_001112726.2,NM_015005.2	101,101	0,3,5361	TT,TC,CC		0.0135,0.0599,0.028	probably-damaging,probably-damaging	475/1555,405/1520	105350539	3,10725	1670	3694	5364	SO:0001583	missense	283638							g.chr14:105350539C>T	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.1423C>T	14.37:g.105350539C>T	ENSP00000404151:p.Arg475Trp					CEP170B_ENST00000414716.3_Missense_Mutation_p.R475W|CEP170B_ENST00000418279.1_Missense_Mutation_p.R405W|CEP170B_ENST00000556508.1_Missense_Mutation_p.R405W	p.R476W							9	1654	+								Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.1426C>T	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695399	0.68386	5.99E-4	1.35E-4	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.51574	0.71;0.7;0.71;0.71	4.09	4.09	0.47781	.	0.577739	0.16725	N	0.202119	T	0.61751	0.2372	L	0.49350	1.555	0.52501	D	0.999953	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.989	T	0.62845	-0.6768	10	0.62326	D	0.03	-12.0906	12.3112	0.54929	0.1701:0.8299:0.0:0.0	.	475;475;405	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	W	405;475;476;405	ENSP00000451249:R405W;ENSP00000404151:R475W;ENSP00000407238:R476W;ENSP00000415006:R405W	ENSP00000404151:R475W	R	+	1	2	KIAA0284	104421584	0.739000	0.28196	0.982000	0.44146	0.376000	0.30014	1.841000	0.39240	1.813000	0.52934	0.313000	0.20887	CGG		0.736	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726		3	4	0	0	0	1	0	3	4				
BLM	641	broad.mit.edu	37	15	91310185	91310185	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr15:91310185A>G	ENST00000355112.3	+	10	2357	c.2239A>G	c.(2239-2241)Aca>Gca	p.T747A	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Missense_Mutation_p.T747A	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	747	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CTCAGAAGCTACAAATATTTA	0.269			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"""Mis, N, F"""	Bloom Syndrome			"""L, E"""		"""leukemia, lymphoma, skin squamous cell , other cancers"""			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2239-2241)Aca>Gca	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like							54.0	59.0	57.0					15																	91310185		2197	4279	6476	SO:0001583	missense	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91310185A>G	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.2239A>G	15.37:g.91310185A>G	ENSP00000347232:p.Thr747Ala					BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Missense_Mutation_p.T747A	p.T747A	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Lung(145;0.189)		10	2357	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		747			Helicase ATP-binding.		Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	c.2239A>G	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	A	3.010	-0.204090	0.06180	.	.	ENSG00000197299	ENST00000355112;ENST00000536925	T	0.14640	2.49	5.74	2.12	0.27331	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.227468	0.43260	N	0.000582	T	0.04952	0.0133	N	0.11892	0.195	0.28425	N	0.917529	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.14578	0.011;0.004;0.002	T	0.41502	-0.9505	10	0.02654	T	1	-1.0676	4.226	0.10580	0.2579:0.2269:0.5152:0.0	.	747;372;747	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	A	747;400	ENSP00000347232:T747A	ENSP00000347232:T747A	T	+	1	0	BLM	89111189	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	1.781000	0.38644	0.466000	0.27193	-0.449000	0.05564	ACA		0.269	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			16	90	0	0	0	1	0	16	90				
MUC4	4585	broad.mit.edu	37	3	195511870	195511870	+	Missense_Mutation	SNP	G	G	A	rs201707483	byFrequency	TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr3:195511870G>A	ENST00000463781.3	-	2	7040	c.6581C>T	c.(6580-6582)cCt>cTt	p.P2194L	MUC4_ENST00000475231.1_Missense_Mutation_p.P2194L|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	983					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTCGGTGACAGGAAGAGGGGT	0.592													.|||	178	0.0355431	0.0189	0.0403	5008	,	,		15574	0.0		0.0905	False		,,,				2504	0.0348					ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6580-6582)cCt>cTt		mucin 4, cell surface associated							12.0	16.0	15.0					3																	195511870		644	1553	2197	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195511870G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6581C>T	3.37:g.195511870G>A	ENSP00000417498:p.Pro2194Leu					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2194L|MUC4_ENST00000346145.4_Intron	p.P2194L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	7040	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	983					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.6581C>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	G	3.854	-0.031304	0.07543	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.31510	1.5;1.49	.	.	.	.	.	.	.	.	T	0.29158	0.0725	N	0.19112	0.55	0.09310	N	1	D	0.57257	0.979	D	0.63488	0.915	T	0.17018	-1.0383	7	.	.	.	.	4.7077	0.12858	1.0E-4:0.0:0.6463:0.3536	.	2194	E7ESK3	.	L	2194	ENSP00000417498:P2194L;ENSP00000420243:P2194L	.	P	-	2	0	MUC4	196996265	0.001000	0.12720	0.002000	0.10522	0.155000	0.21991	0.174000	0.16743	-0.833000	0.04245	0.064000	0.15345	CCT		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	2	0	0	0	1	0	3	2				
DDX56	54606	broad.mit.edu	37	7	44613434	44613434	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr7:44613434C>T	ENST00000258772.5	-	1	167		c.e1+1		DDX56_ENST00000485367.1_5'Flank|DDX56_ENST00000431640.1_Splice_Site	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56						ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CTCGCGTGTACCTGAAGGAGC	0.657																																						ENST00000258772.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						c.e1+1		DEAD (Asp-Glu-Ala-Asp) box helicase 56							35.0	37.0	36.0					7																	44613434		2203	4300	6503	SO:0001630	splice_region_variant	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44613434C>T	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"""DEAD-boxes"""	18193	protein-coding gene	gene with protein product	"""nucleolar helicase of 61 kDa"""	608023	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"""			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.60+1G>A	7.37:g.44613434C>T						DDX56_ENST00000431640.1_Splice_Site		NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN			1	167	-								A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Splice_Site	SNP	ENST00000258772.5	37		CCDS5492.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.209178	0.39003	.	.	ENSG00000136271	ENST00000258772;ENST00000431640	.	.	.	5.22	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9321	0.47224	0.0:0.8103:0.1897:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DDX56	44579959	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	2.245000	0.43133	2.441000	0.82636	0.655000	0.94253	.		0.657	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082	Intron	4	47	0	0	0	1	0	4	47				
LCT	3938	broad.mit.edu	37	2	136566483	136566483	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr2:136566483C>T	ENST00000264162.2	-	8	3444	c.3434G>A	c.(3433-3435)cGa>cAa	p.R1145Q	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1145	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CTGCAGCATTCGGTCAGCGGC	0.562																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(3433-3435)cGa>cAa		lactase							71.0	74.0	73.0					2																	136566483		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566483C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3434G>A	2.37:g.136566483C>T	ENSP00000264162:p.Arg1145Gln						p.R1145Q	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3444	-			1145			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.3434G>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021165	0.93462	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.37584	1.19	5.66	5.66	0.87406	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67524	0.2902	M	0.88775	2.98	0.58432	D	0.999995	D	0.89917	1.0	D	0.80764	0.994	T	0.68330	-0.5437	10	0.36615	T	0.2	-12.0683	19.7554	0.96287	0.0:1.0:0.0:0.0	.	1145	P09848	LPH_HUMAN	Q	1145;577	ENSP00000264162:R1145Q	ENSP00000264162:R1145Q	R	-	2	0	LCT	136282953	1.000000	0.71417	0.995000	0.50966	0.937000	0.57800	7.818000	0.86416	2.665000	0.90641	0.563000	0.77884	CGA		0.562	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		4	97	0	0	0	1	0	4	97				
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000583206.1_5'Flank|TVP23C_ENST00000584811.1_Splice_Site	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000584811.1																			0											c.e7-2		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441469C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T						TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000225576.3_Intron								7	1815	-								Q3LIC7	Splice_Site	SNP	ENST00000225576.3	37		CCDS11170.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		6	91	0	0	0	1	0	6	91				
ANXA5	308	broad.mit.edu	37	4	122602906	122602906	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr4:122602906G>T	ENST00000296511.5	-	6	599	c.314C>A	c.(313-315)aCa>aAa	p.T105K	ANXA5_ENST00000515017.1_Intron|ANXA5_ENST00000501272.2_Missense_Mutation_p.T45K|ANXA5_ENST00000509016.1_5'UTR	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	105					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						TTTTTCATTTGTTCCAGCTCC	0.308																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)	ENST00000296511.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.(313-315)aCa>aAa		annexin A5							161.0	154.0	156.0					4																	122602906		2203	4300	6503	SO:0001583	missense	308				anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr4:122602906G>T	U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"""Annexins"""	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.314C>A	4.37:g.122602906G>T	ENSP00000296511:p.Thr105Lys					ANXA5_ENST00000501272.2_Missense_Mutation_p.T45K|ANXA5_ENST00000509016.1_5'UTR|ANXA5_ENST00000515017.1_Intron	p.T105K	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN			6	599	-			105					D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Missense_Mutation	SNP	ENST00000296511.5	37	c.314C>A	CCDS3720.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464941	0.84425	.	.	ENSG00000164111	ENST00000296511;ENST00000512232;ENST00000501272	T;T	0.05855	3.38;3.38	5.91	5.91	0.95273	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	M	0.91920	3.255	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.997;1.0	T	0.31392	-0.9945	10	0.87932	D	0	.	19.0725	0.93145	0.0:0.0:1.0:0.0	.	45;105;105	D6RBL5;E7ENQ5;P08758	.;.;ANXA5_HUMAN	K	105;105;45	ENSP00000296511:T105K;ENSP00000424106:T45K	ENSP00000296511:T105K	T	-	2	0	ANXA5	122822356	1.000000	0.71417	0.967000	0.41034	0.829000	0.46940	6.738000	0.74822	2.804000	0.96469	0.650000	0.86243	ACA		0.308	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256636.2	NM_001154		41	69	1	0	1.56793e-16	1	1.6103e-16	41	69				
KIAA1522	57648	broad.mit.edu	37	1	33235952	33235952	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr1:33235952G>A	ENST00000373480.1	+	6	1098	c.995G>A	c.(994-996)cGc>cAc	p.R332H	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Missense_Mutation_p.R391H|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R343H	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	332	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GCCTCAGTCCGCTCGCTGGGG	0.692																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1171-1173)cGc>cAc		KIAA1522							18.0	21.0	20.0					1																	33235952		2106	4230	6336	SO:0001583	missense	57648							g.chr1:33235952G>A	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.995G>A	1.37:g.33235952G>A	ENSP00000362579:p.Arg332His					KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R343H|KIAA1522_ENST00000373480.1_Missense_Mutation_p.R332H	p.R391H	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			6	1242	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	332			Ser-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	ENST00000373480.1	37	c.1172G>A	CCDS55588.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727450	0.48833	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.16073	2.37;2.38;2.39	4.33	2.41	0.29592	.	0.088175	0.49305	N	0.000159	T	0.15176	0.0366	L	0.58101	1.795	0.37537	D	0.918151	B;B;B	0.24651	0.045;0.045;0.108	B;B;B	0.16722	0.011;0.016;0.016	T	0.08066	-1.0740	10	0.32370	T	0.25	-5.7686	8.1645	0.31217	0.1879:0.0:0.8121:0.0	.	343;332;391	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	H	391;343;332	ENSP00000383851:R391H;ENSP00000362580:R343H;ENSP00000362579:R332H	ENSP00000362579:R332H	R	+	2	0	KIAA1522	33008539	1.000000	0.71417	0.868000	0.34077	0.828000	0.46876	2.676000	0.46883	0.924000	0.37069	0.561000	0.74099	CGC		0.692	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			3	13	0	0	0	1	0	3	13				
KCND2	3751	broad.mit.edu	37	7	119914768	119914768	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr7:119914768C>T	ENST00000331113.4	+	1	1047	c.82C>T	c.(82-84)Ccg>Tcg	p.P28S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	28					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GGGGCCTATGCCGGCTCCCCC	0.632																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(82-84)Ccg>Tcg		potassium voltage-gated channel, Shal-related subfamily, member 2							95.0	112.0	106.0					7																	119914768		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119914768C>T	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.82C>T	7.37:g.119914768C>T	ENSP00000333496:p.Pro28Ser						p.P28S	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			1	1047	+	all_neural(327;0.117)		28					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.82C>T	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617767	0.87359	.	.	ENSG00000184408	ENST00000331113	D	0.97352	-4.35	5.51	5.51	0.81932	Shal-type voltage-gated potassium channels (1);	0.000000	0.85682	D	0.000000	D	0.98201	0.9405	M	0.83953	2.67	0.80722	D	1	D	0.54397	0.966	P	0.58013	0.831	D	0.98356	1.0546	9	.	.	.	.	19.427	0.94746	0.0:1.0:0.0:0.0	.	28	Q9NZV8	KCND2_HUMAN	S	28	ENSP00000333496:P28S	.	P	+	1	0	KCND2	119702004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.603000	0.88011	0.655000	0.94253	CCG		0.632	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		6	396	0	0	0	1	0	6	396				
SSX5	6758	broad.mit.edu	37	X	48053653	48053653	+	Silent	SNP	C	C	T			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chrX:48053653C>T	ENST00000376923.1	-	3	191	c.192G>A	c.(190-192)aaG>aaA	p.K64K	SSX5_ENST00000311798.1_Silent_p.K105K|SSX5_ENST00000347757.1_Silent_p.K64K			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	64	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						GGAGGGTGGCCTTGAAACCTA	0.473																																						ENST00000311798.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						c.(313-315)aaG>aaA		synovial sarcoma, X breakpoint 5							122.0	109.0	113.0					X																	48053653		2203	4299	6502	SO:0001819	synonymous_variant	6758				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48053653C>T	BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.192G>A	X.37:g.48053653C>T						SSX5_ENST00000376923.1_Silent_p.K64K|SSX5_ENST00000347757.1_Silent_p.K64K	p.K105K	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN			5	367	-			64					Q5JQ59|Q5JQ60|Q96AW3	Silent	SNP	ENST00000376923.1	37	c.315G>A	CCDS14289.1																																																																																				0.473	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056466.1	NM_021015		9	93	0	0	0	1	0	9	93				
MTUS2	23281	broad.mit.edu	37	13	29855958	29855958	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr13:29855958G>A	ENST00000431530.3	+	4	2850	c.2792G>A	c.(2791-2793)cGc>cAc	p.R931H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	921	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ACAGCACCCCGCAGGAGTTTA	0.572																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(2791-2793)cGc>cAc		microtubule associated tumor suppressor candidate 2							52.0	52.0	52.0					13																	29855958		1858	4100	5958	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29855958G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2792G>A	13.37:g.29855958G>A	ENSP00000392057:p.Arg931His						p.R931H	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			4	2850	+			921			Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.2792G>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982609	0.74474	.	.	ENSG00000132938	ENST00000431530	T	0.20738	2.05	4.87	4.01	0.46588	.	0.186918	0.36893	N	0.002355	T	0.41282	0.1152	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.20840	-1.0263	9	.	.	.	.	14.6054	0.68475	0.0:0.1468:0.8532:0.0	.	921	Q5JR59	MTUS2_HUMAN	H	931	ENSP00000392057:R931H	.	R	+	2	0	MTUS2	28753958	1.000000	0.71417	0.983000	0.44433	0.747000	0.42532	5.770000	0.68873	1.389000	0.46526	0.655000	0.94253	CGC		0.572	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		6	92	0	0	0	1	0	6	92				
FOLR1	2348	broad.mit.edu	37	11	71906326	71906326	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr11:71906326G>A	ENST00000393679.1	+	3	616	c.180G>A	c.(178-180)tgG>tgA	p.W60*	FOLR1_ENST00000393681.2_Nonsense_Mutation_p.W60*|FOLR1_ENST00000393676.3_Nonsense_Mutation_p.W60*|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000312293.4_Nonsense_Mutation_p.W60*			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	60					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	GTCGACCCTGGAGGAAGAATG	0.527																																						ENST00000393679.1																			0				cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(178-180)tgG>tgA		folate receptor 1 (adult)							91.0	83.0	86.0					11																	71906326		2200	4293	6493	SO:0001587	stop_gained	2348				cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71906326G>A	J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.180G>A	11.37:g.71906326G>A	ENSP00000377284:p.Trp60*					FOLR1_ENST00000393681.2_Nonsense_Mutation_p.W60*|FOLR1_ENST00000312293.4_Nonsense_Mutation_p.W60*|FOLR1_ENST00000393676.3_Nonsense_Mutation_p.W60*|RP11-807H22.7_ENST00000378140.3_RNA	p.W60*			P15328	FOLR1_HUMAN			3	616	+			60					Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Nonsense_Mutation	SNP	ENST00000393679.1	37	c.180G>A	CCDS8211.1	.	.	.	.	.	.	.	.	.	.	g	37	6.142738	0.97320	.	.	ENSG00000110195	ENST00000312293;ENST00000393681;ENST00000393679;ENST00000393676	.	.	.	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.5153	16.6542	0.85224	0.0:0.0:1.0:0.0	.	.	.	.	X	60	.	ENSP00000308137:W60X	W	+	3	0	FOLR1	71583974	1.000000	0.71417	0.998000	0.56505	0.321000	0.28281	9.380000	0.97202	2.566000	0.86566	0.563000	0.77884	TGG		0.527	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396773.1	NM_016725		63	68	0	0	0	1	0	63	68				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			42	60	0	0	0	1	0	42	60				
SEL1L	6400	broad.mit.edu	37	14	81945999	81945999	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr14:81945999T>C	ENST00000336735.4	-	20	2248	c.2132A>G	c.(2131-2133)aAa>aGa	p.K711R		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	711	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GACGCCCAATTTGCAGAGGGC	0.433																																						ENST00000336735.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28						c.(2131-2133)aAa>aGa		sel-1 suppressor of lin-12-like (C. elegans)							95.0	94.0	94.0					14																	81945999		2203	4300	6503	SO:0001583	missense	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81945999T>C		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.2132A>G	14.37:g.81945999T>C	ENSP00000337053:p.Lys711Arg						p.K711R	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	20	2248	-			711			Interaction with ERLEC1, OS9 and SYVN1.		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	c.2132A>G	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.809555	0.90707	.	.	ENSG00000071537	ENST00000336735	T	0.35973	1.28	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.57373	0.2049	M	0.83774	2.66	0.80722	D	1	P	0.52316	0.952	P	0.54100	0.742	T	0.61202	-0.7110	10	0.48119	T	0.1	.	16.5885	0.84745	0.0:0.0:0.0:1.0	.	711	Q9UBV2	SE1L1_HUMAN	R	711	ENSP00000337053:K711R	ENSP00000337053:K711R	K	-	2	0	SEL1L	81015752	1.000000	0.71417	0.987000	0.45799	0.883000	0.51084	7.638000	0.83328	2.317000	0.78254	0.460000	0.39030	AAA		0.433	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		39	54	0	0	0	1	0	39	54				
IL1R1	3554	broad.mit.edu	37	2	102782633	102782633	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr2:102782633G>A	ENST00000410023.1	+	6	865	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	IL1R1_ENST00000409288.1_Missense_Mutation_p.V183M|IL1R1_ENST00000233946.3_Missense_Mutation_p.V183M|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_Missense_Mutation_p.V183M|IL1R1_ENST00000409929.1_Missense_Mutation_p.V183M|IL1R1_ENST00000424272.1_Missense_Mutation_p.V183M			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	183	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TAGGCTCATCGTGATGAATGT	0.388																																						ENST00000410023.1																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19						c.(547-549)Gtg>Atg		interleukin 1 receptor, type I	Anakinra(DB00026)						129.0	122.0	124.0					2																	102782633		2203	4300	6503	SO:0001583	missense	3554				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	g.chr2:102782633G>A	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.547G>A	2.37:g.102782633G>A	ENSP00000386380:p.Val183Met					IL1R1_ENST00000409329.1_Missense_Mutation_p.V183M|IL1R1_ENST00000409929.1_Missense_Mutation_p.V183M|IL1R1_ENST00000424272.1_Missense_Mutation_p.V183M|IL1R1_ENST00000233946.3_Missense_Mutation_p.V183M|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409288.1_Missense_Mutation_p.V183M	p.V183M			P14778	IL1R1_HUMAN			6	865	+			183			Ig-like C2-type 2.		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	c.547G>A	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158800	0.78226	.	.	ENSG00000115594	ENST00000409929;ENST00000424272;ENST00000409329;ENST00000428279;ENST00000409288;ENST00000410023;ENST00000233946	T;T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.96	1.63	0.23807	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.818862	0.11334	N	0.574733	D	0.82277	0.5002	M	0.64997	1.995	0.09310	N	1	D;D;D	0.69078	0.997;0.997;0.996	D;P;P	0.64144	0.922;0.886;0.806	T	0.68265	-0.5454	10	0.72032	D	0.01	.	5.4392	0.16498	0.2221:0.2525:0.5254:0.0	.	183;183;183	B8ZZW4;P14778;B8ZZ73	.;IL1R1_HUMAN;.	M	183;183;183;39;183;183;183	ENSP00000386776:V183M;ENSP00000415366:V183M;ENSP00000387131:V183M;ENSP00000410461:V39M;ENSP00000386478:V183M;ENSP00000386380:V183M;ENSP00000233946:V183M	ENSP00000233946:V183M	V	+	1	0	IL1R1	102149065	0.003000	0.15002	0.002000	0.10522	0.750000	0.42670	0.057000	0.14279	0.294000	0.22547	0.585000	0.79938	GTG		0.388	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			52	43	0	0	0	1	0	52	43				
PTCHD1	139411	broad.mit.edu	37	X	23398114	23398114	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chrX:23398114C>T	ENST00000379361.4	+	2	1618	c.758C>T	c.(757-759)aCg>aTg	p.T253M		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	253					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TACCCTTACACGTCCTCCTCA	0.507																																						ENST00000379361.4																			0				NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(757-759)aCg>aTg		patched domain containing 1							213.0	192.0	199.0					X																	23398114		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23398114C>T	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.758C>T	X.37:g.23398114C>T	ENSP00000368666:p.Thr253Met						p.T253M	NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN			2	1618	+			253					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.758C>T	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422876	0.83559	.	.	ENSG00000165186	ENST00000379361	D	0.86097	-2.07	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.90954	0.7156	L	0.57536	1.79	0.52501	D	0.999954	D;D	0.89917	1.0;0.992	D;P	0.85130	0.997;0.83	D	0.91989	0.5601	10	0.87932	D	0	.	17.4049	0.87470	0.0:1.0:0.0:0.0	.	148;253	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	M	253	ENSP00000368666:T253M	ENSP00000368666:T253M	T	+	2	0	PTCHD1	23308035	1.000000	0.71417	0.996000	0.52242	0.947000	0.59692	7.278000	0.78587	2.381000	0.81170	0.600000	0.82982	ACG		0.507	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		8	143	0	0	0	1	0	8	143				
GALNT12	79695	broad.mit.edu	37	9	101608400	101608400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr9:101608400C>T	ENST00000375011.3	+	9	1600	c.1600C>T	c.(1600-1602)Cag>Tag	p.Q534*	RP11-92C4.3_ENST00000433997.1_RNA|RP11-92C4.3_ENST00000589257.1_RNA	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	534	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GTTCATCTTGCAGGAGGTAGG	0.527																																						ENST00000375011.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1600-1602)Cag>Tag		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)							133.0	121.0	125.0					9																	101608400		2203	4300	6503	SO:0001587	stop_gained	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101608400C>T	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.1600C>T	9.37:g.101608400C>T	ENSP00000364150:p.Gln534*						p.Q534*	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN			9	1600	+		Acute lymphoblastic leukemia(62;0.0559)	534			Ricin B-type lectin.		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Nonsense_Mutation	SNP	ENST00000375011.3	37	c.1600C>T	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983186	0.74474	.	.	ENSG00000119514	ENST00000375011	.	.	.	5.45	3.4	0.38934	.	0.439432	0.26248	N	0.025480	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	13.8143	0.63281	0.2874:0.7126:0.0:0.0	.	.	.	.	X	534	.	ENSP00000364150:Q534X	Q	+	1	0	GALNT12	100648221	0.991000	0.36638	0.931000	0.37212	0.313000	0.28021	0.918000	0.28678	1.287000	0.44583	-0.169000	0.13324	CAG		0.527	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		10	69	0	0	0	1	0	10	69				
OR51E2	81285	broad.mit.edu	37	11	4703857	4703857	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr11:4703857G>A	ENST00000396950.3	-	2	324	c.85C>T	c.(85-87)Ccc>Tcc	p.P29S		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	29					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAAAGGAGGGGGAAGCCAACC	0.498																																						ENST00000396950.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23						c.(85-87)Ccc>Tcc		olfactory receptor, family 51, subfamily E, member 2							79.0	77.0	77.0					11																	4703857		2201	4298	6499	SO:0001583	missense	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4703857G>A	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"""GPCR / Class A : Olfactory receptors"""	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.85C>T	11.37:g.4703857G>A	ENSP00000380153:p.Pro29Ser						p.P29S	NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	324	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	29					B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	37	c.85C>T	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050045	0.55218	.	.	ENSG00000167332	ENST00000396950;ENST00000532598	T;T	0.00378	7.67;7.67	5.0	5.0	0.66597	.	0.000000	0.46145	D	0.000311	T	0.01156	0.0038	M	0.90252	3.1	0.36723	D	0.881294	D	0.89917	1.0	D	0.97110	1.0	T	0.48317	-0.9046	10	0.87932	D	0	.	10.5945	0.45329	0.088:0.0:0.912:0.0	.	29	Q9H255	O51E2_HUMAN	S	29	ENSP00000380153:P29S;ENSP00000432644:P29S	ENSP00000380153:P29S	P	-	1	0	OR51E2	4660433	1.000000	0.71417	0.982000	0.44146	0.651000	0.38670	3.667000	0.54547	2.613000	0.88420	0.655000	0.94253	CCC		0.498	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		22	45	0	0	0	1	0	22	45				
NEFM	4741	broad.mit.edu	37	8	24772171	24772171	+	Missense_Mutation	SNP	G	G	A	rs370131251		TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr8:24772171G>A	ENST00000221166.5	+	1	1647	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	NEFM_ENST00000433454.2_5'Flank|RP11-624C23.1_ENST00000519689.1_RNA|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.E289K|NEFM_ENST00000437366.2_Missense_Mutation_p.E289K			P07197	NFM_HUMAN	neurofilament, medium polypeptide	289	Linker 2.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCACCAGGCCGAAGAGTGGTT	0.602																																						ENST00000221166.5																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(865-867)Gaa>Aaa		neurofilament, medium polypeptide		G	LYS/GLU	0,4406		0,0,2203	109.0	91.0	97.0		865	4.7	1.0	8		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	NEFM	NM_005382.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	289/917	24772171	1,13005	2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24772171G>A	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.865G>A	8.37:g.24772171G>A	ENSP00000221166:p.Glu289Lys					GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000518131.1_Missense_Mutation_p.E289K|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.E289K	p.E289K			P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	1	1647	+		Prostate(55;0.157)	289			Linker 2.|Rod.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.865G>A	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	G	34	5.376366	0.95945	0.0	1.16E-4	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366	D;D;D	0.93763	-3.28;-3.28;-3.28	4.69	4.69	0.59074	Filament (1);	0.000000	0.44902	D	0.000411	D	0.96738	0.8935	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.981;0.999	D	0.97473	1.0042	10	0.87932	D	0	.	17.9719	0.89116	0.0:0.0:1.0:0.0	.	289;289	E7EMV2;P07197	.;NFM_HUMAN	K	289	ENSP00000221166:E289K;ENSP00000427872:E289K;ENSP00000410137:E289K	ENSP00000221166:E289K	E	+	1	0	NEFM	24828076	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.796000	0.99103	2.312000	0.78011	0.467000	0.42956	GAA		0.602	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		4	48	0	0	0	1	0	4	48				
SLC2A11	66035	broad.mit.edu	37	22	24217412	24217412	+	Silent	SNP	C	C	T			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr22:24217412C>T	ENST00000345044.6	+	4	658	c.390C>T	c.(388-390)ctC>ctT	p.L130L	SLC2A11_ENST00000398356.2_Silent_p.L137L|SLC2A11_ENST00000405847.1_Silent_p.L130L|SLC2A11_ENST00000467660.1_3'UTR|AP000350.10_ENST00000433835.3_Silent_p.L95L|SLC2A11_ENST00000316185.8_Silent_p.L133L			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	130					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GAAGACTGCTCGTGGGAGTCA	0.448																																						ENST00000345044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						c.(388-390)ctC>ctT		solute carrier family 2 (facilitated glucose transporter), member 11							62.0	56.0	58.0					22																	24217412		2203	4300	6503	SO:0001819	synonymous_variant	66035					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr22:24217412C>T	AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"""Solute carriers"""	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.390C>T	22.37:g.24217412C>T						SLC2A11_ENST00000405847.1_Silent_p.L130L|SLC2A11_ENST00000398356.2_Silent_p.L137L|SLC2A11_ENST00000316185.8_Silent_p.L133L|SLC2A11_ENST00000467660.1_3'UTR|AP000350.10_ENST00000433835.3_Silent_p.L95L	p.L130L			Q9BYW1	GTR11_HUMAN			4	658	+			130					E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Silent	SNP	ENST00000345044.6	37	c.390C>T	CCDS46673.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.777214	0.00640	.	.	ENSG00000251357	ENST00000421180	.	.	.	3.33	-0.272	0.12919	.	.	.	.	.	T	0.43853	0.1266	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	T	0.22977	-1.0201	4	.	.	.	.	3.9612	0.09412	0.1549:0.584:0.1523:0.1088	.	.	.	.	L	106	.	.	S	+	2	0	AP000350.10	22547412	0.000000	0.05858	0.287000	0.24848	0.015000	0.08874	-2.389000	0.01058	-0.066000	0.12998	-2.864000	0.00100	TCG		0.448	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319889.3	NM_030807		4	74	0	0	0	1	0	4	74				
HNMT	3176	broad.mit.edu	37	2	138722122	138722122	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr2:138722122A>G	ENST00000280097.3	+	1	243	c.61A>G	c.(61-63)Agg>Ggg	p.R21G	HNMT_ENST00000410115.1_Missense_Mutation_p.R21G|HNMT_ENST00000329366.4_Missense_Mutation_p.R21G|HNMT_ENST00000280096.5_Missense_Mutation_p.R21G|HNMT_ENST00000485653.1_3'UTR	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	21					brain development (GO:0007420)|hyperosmotic response (GO:0006972)|respiratory gaseous exchange (GO:0007585)|response to amine (GO:0014075)|response to cocaine (GO:0042220)|response to glucocorticoid (GO:0051384)|response to interleukin-1 (GO:0070555)|response to tumor cell (GO:0002347)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	histamine N-methyltransferase activity (GO:0046539)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Chlorhexidine(DB00878)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	ATCTTTCCGGAGGTTTCTCAA	0.448																																						ENST00000280097.3																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(61-63)Agg>Ggg		histamine N-methyltransferase	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)						158.0	157.0	157.0					2																	138722122		2203	4300	6503	SO:0001583	missense	3176				respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity	g.chr2:138722122A>G		CCDS2181.1, CCDS33296.1, CCDS33297.1	2q22.1	2008-02-05			ENSG00000150540	ENSG00000150540	2.1.1.8		5028	protein-coding gene	gene with protein product		605238					Standard	NM_001024074		Approved		uc002tvf.3	P50135	OTTHUMG00000131751	ENST00000280097.3:c.61A>G	2.37:g.138722122A>G	ENSP00000280097:p.Arg21Gly					HNMT_ENST00000485653.1_3'UTR|HNMT_ENST00000410115.1_Missense_Mutation_p.R21G|HNMT_ENST00000280096.5_Missense_Mutation_p.R21G|HNMT_ENST00000329366.4_Missense_Mutation_p.R21G	p.R21G	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.125)	1	243	+			21					B2R9J3|Q546Z6|Q7Z7I2|Q8IU56|Q8WW98|Q9BRW6	Missense_Mutation	SNP	ENST00000280097.3	37	c.61A>G	CCDS2181.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.093707	0.36952	.	.	ENSG00000150540	ENST00000410115;ENST00000329366;ENST00000280097;ENST00000280096	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.23	4.07	0.47477	.	0.293840	0.39274	N	0.001417	T	0.26521	0.0648	L	0.57536	1.79	0.33423	D	0.580122	P;P;B	0.41848	0.763;0.589;0.113	P;B;B	0.44897	0.463;0.163;0.017	T	0.33111	-0.9881	10	0.34782	T	0.22	-14.7517	5.8669	0.18781	0.582:0.2776:0.0:0.1404	.	21;21;21	P50135-2;Q9BRW6;P50135	.;.;HNMT_HUMAN	G	21	ENSP00000386940:R21G;ENSP00000333259:R21G;ENSP00000280097:R21G;ENSP00000280096:R21G	ENSP00000280096:R21G	R	+	1	2	HNMT	138438592	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	2.161000	0.42358	2.201000	0.70794	0.459000	0.35465	AGG		0.448	HNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254673.1			5	277	0	0	0	1	0	5	277				
PRLR	5618	broad.mit.edu	37	5	35065444	35065444	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr5:35065444G>A	ENST00000382002.5	-	10	2042	c.1616C>T	c.(1615-1617)aCt>aTt	p.T539I	PRLR_ENST00000310101.5_Silent_p.D348D|PRLR_ENST00000342362.5_Missense_Mutation_p.T438I|PRLR_ENST00000511486.1_Missense_Mutation_p.T438I|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000513753.1_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	539					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	GTTCTCAGGAGTCCCGGGCTT	0.483																																						ENST00000382002.5																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1615-1617)aCt>aTt		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						88.0	85.0	86.0					5																	35065444		2203	4300	6503	SO:0001583	missense	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35065444G>A		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1616C>T	5.37:g.35065444G>A	ENSP00000371432:p.Thr539Ile					PRLR_ENST00000310101.5_Silent_p.D348D|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.T438I|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.T438I	p.T539I	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		10	2042	-	all_lung(31;3.83e-05)		539					B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.1616C>T	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.881367	0.00532	.	.	ENSG00000113494	ENST00000342362;ENST00000382002;ENST00000511486	D;T;D	0.87256	-2.23;-1.3;-2.23	5.77	0.872	0.19113	.	1.407060	0.03957	N	0.289441	T	0.74114	0.3674	.	.	.	0.09310	N	1	B;B	0.25105	0.072;0.118	B;B	0.23275	0.02;0.045	T	0.58989	-0.7538	9	0.18710	T	0.47	0.1754	1.6488	0.02767	0.344:0.1318:0.3899:0.1344	.	539;438	P16471;P16471-2	PRLR_HUMAN;.	I	438;539;438	ENSP00000339213:T438I;ENSP00000371432:T539I;ENSP00000422556:T438I	ENSP00000339213:T438I	T	-	2	0	PRLR	35101201	0.018000	0.18449	0.000000	0.03702	0.000000	0.00434	0.223000	0.17719	0.068000	0.16574	-0.825000	0.03093	ACT		0.483	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			5	129	0	0	0	1	0	5	129				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	58	0	0	0	1	0	4	58				
GDAP2	54834	broad.mit.edu	37	1	118413222	118413222	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr1:118413222T>C	ENST00000369443.5	-	14	1712	c.1463A>G	c.(1462-1464)tAt>tGt	p.Y488C		NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	488					response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		ATATGATGTATAGTAAGGCCC	0.408																																						ENST00000369443.4																			0				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16						c.(1462-1464)tAt>tGt		ganglioside induced differentiation associated protein 2							122.0	113.0	116.0					1																	118413222		2203	4300	6503	SO:0001583	missense	54834							g.chr1:118413222T>C	AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.1463A>G	1.37:g.118413222T>C	ENSP00000358451:p.Tyr488Cys						p.Y488C	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)	14	1712	-		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)	488					Q96DZ0	Missense_Mutation	SNP	ENST00000369443.5	37	c.1463A>G	CCDS897.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.906780	0.52333	.	.	ENSG00000196505	ENST00000369443	T	0.32753	1.44	5.55	3.18	0.36537	.	0.324779	0.30101	N	0.010408	T	0.09949	0.0244	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.06232	-1.0838	10	0.72032	D	0.01	-16.6811	5.786	0.18333	0.1521:0.0789:0.0:0.769	.	488	Q9NXN4	GDAP2_HUMAN	C	488	ENSP00000358451:Y488C	ENSP00000358451:Y488C	Y	-	2	0	GDAP2	118214745	0.999000	0.42202	0.476000	0.27291	0.851000	0.48451	1.060000	0.30530	0.499000	0.27970	0.482000	0.46254	TAT		0.408	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033732.2	NM_017686		7	42	0	0	0	1	0	7	42				
TNKS	8658	broad.mit.edu	37	8	9563758	9563758	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr8:9563758C>G	ENST00000310430.6	+	7	1290	c.1264C>G	c.(1264-1266)Cta>Gta	p.L422V	TNKS_ENST00000518281.1_Missense_Mutation_p.L185V|TNKS_ENST00000518027.1_3'UTR|TNKS_ENST00000520408.1_Missense_Mutation_p.L422V	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	422					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AGAACTGCTACTAAAGGTAAG	0.313																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(1264-1266)Cta>Gta		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							75.0	74.0	74.0					8																	9563758		2203	4299	6502	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9563758C>G	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.1264C>G	8.37:g.9563758C>G	ENSP00000311579:p.Leu422Val					TNKS_ENST00000518281.1_Missense_Mutation_p.L185V|TNKS_ENST00000518027.1_3'UTR|TNKS_ENST00000520408.1_Missense_Mutation_p.L422V	p.L422V	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	7	1290	+			422					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.1264C>G	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	C	7.926	0.739707	0.15642	.	.	ENSG00000173273	ENST00000520408;ENST00000310430;ENST00000518281	T;T;T	0.27557	2.39;2.39;1.66	5.86	-0.261	0.12963	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.21227	0.0511	N	0.25201	0.72	0.35108	D	0.765893	B;B	0.27910	0.193;0.02	B;B	0.32022	0.139;0.122	T	0.15694	-1.0428	10	0.33940	T	0.23	.	14.1453	0.65347	0.0:0.6078:0.0:0.3922	.	422;422	E7EWY6;O95271	.;TNKS1_HUMAN	V	422;422;185	ENSP00000428299:L422V;ENSP00000311579:L422V;ENSP00000429890:L185V	ENSP00000311579:L422V	L	+	1	2	TNKS	9601168	0.937000	0.31787	0.042000	0.18584	0.630000	0.37929	0.648000	0.24828	-0.234000	0.09782	-0.813000	0.03139	CTA		0.313	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		5	120	0	0	0	1	0	5	120				
FCRL3	115352	broad.mit.edu	37	1	157665283	157665283	+	Missense_Mutation	SNP	C	C	T	rs375378164		TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr1:157665283C>T	ENST00000368184.3	-	8	1538	c.1247G>A	c.(1246-1248)cGa>cAa	p.R416Q	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.R416Q|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	416	Ig-like C2-type 5.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					ATGATAAAATCGGTACAGGAT	0.587																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(1246-1248)cGa>cAa		Fc receptor-like 3							84.0	83.0	84.0					1																	157665283		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157665283C>T	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1247G>A	1.37:g.157665283C>T	ENSP00000357167:p.Arg416Gln					FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.R416Q	p.R416Q	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			8	1538	-	all_hematologic(112;0.0378)		416			Ig-like C2-type 5.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.1247G>A	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	.	0.037	-1.303266	0.01353	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.02812	4.15;4.15	5.3	-7.5	0.01351	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.139170	0.02209	N	0.062940	T	0.00468	0.0015	N	0.10972	0.075	0.09310	N	1	B;B;B	0.19817	0.029;0.039;0.023	B;B;B	0.28784	0.017;0.094;0.014	T	0.41945	-0.9480	10	0.07813	T	0.8	.	9.0225	0.36209	0.1071:0.2772:0.0:0.6158	.	416;321;416	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	Q	416	ENSP00000357169:R416Q;ENSP00000357167:R416Q	ENSP00000292392:R416Q	R	-	2	0	FCRL3	155931907	0.010000	0.17322	0.000000	0.03702	0.000000	0.00434	-2.058000	0.01394	-2.347000	0.00620	-1.808000	0.00615	CGA		0.587	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		5	152	0	0	0	1	0	5	152				
PKD1L2	114780	broad.mit.edu	37	16	81222525	81222525	+	RNA	SNP	G	G	A			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr16:81222525G>A	ENST00000525539.1	-	0	1749				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCATTGTCTGGCCAGCCCAGG	0.428																																						ENST00000599697.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1750-1752)Cca>Tca		polycystic kidney disease 1-like 2							155.0	158.0	157.0					16																	81222525		2015	4178	6193			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81222525G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81222525G>A						PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA	p.P584S			Q7Z442	PK1L2_HUMAN			10	1749	-			584			REJ.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.1750C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.54|14.54	2.565485|2.565485	0.45694|0.45694	.|.	.|.	ENSG00000166473|ENSG00000166473	ENST00000526632|ENST00000337114	.|T	.|0.70869	.|-0.52	4.97|4.97	4.97|4.97	0.65823|0.65823	.|Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	.|0.455087	.|0.22540	.|N	.|0.058739	D|D	0.84737|0.84737	0.5538|0.5538	.|.	.|.	.|.	0.32620|0.32620	N|N	0.523459|0.523459	.|D;P	.|0.89917	.|1.0;0.889	.|D;P	.|0.79784	.|0.993;0.526	D|D	0.88609|0.88609	0.3155|0.3155	4|9	.|0.87932	.|D	.|0	-11.5492|-11.5492	18.3229|18.3229	0.90244|0.90244	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|584;584	.|Q7Z442-3;Q7Z442	.|.;PK1L2_HUMAN	V|S	111|584	.|ENSP00000337397:P584S	.|ENSP00000337397:P584S	A|P	-|-	2|1	0|0	PKD1L2|PKD1L2	79780026|79780026	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.203000|0.203000	0.24098|0.24098	4.341000|4.341000	0.59335|0.59335	2.337000|2.337000	0.79520|0.79520	0.442000|0.442000	0.29010|0.29010	GCC|CCA		0.428	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			5	176	0	0	0	1	0	5	176				
UTP6	55813	broad.mit.edu	37	17	30207649	30207649	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr17:30207649G>A	ENST00000261708.4	-	11	1047	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	304					rRNA processing (GO:0006364)	nucleolus (GO:0005730)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TCCTCCTTCCGGCCGACCTCC	0.488																																						ENST00000261708.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21						c.(910-912)Cgg>Tgg		UTP6, small subunit (SSU) processome component, homolog (yeast)							201.0	177.0	185.0					17																	30207649		2203	4300	6503	SO:0001583	missense	55813				rRNA processing	nucleolus	binding	g.chr17:30207649G>A	AF116631	CCDS11269.1	17q11.2	2010-06-24	2006-05-16	2006-05-16	ENSG00000108651	ENSG00000108651			18279	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated antigen 66"""		"""chromosome 17 open reading frame 40"""	C17orf40		10843809, 16138909	Standard	NM_018428		Approved	HCA66	uc002hgr.3	Q9NYH9	OTTHUMG00000132815	ENST00000261708.4:c.910C>T	17.37:g.30207649G>A	ENSP00000261708:p.Arg304Trp					CTC-542B22.2_ENST00000583236.1_lincRNA	p.R304W	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN			11	1047	-		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)	304					Q8IX96|Q96BL2|Q9NQ91	Missense_Mutation	SNP	ENST00000261708.4	37	c.910C>T	CCDS11269.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948390	0.53186	.	.	ENSG00000108651	ENST00000261708	T	0.34859	1.34	5.16	4.2	0.49525	.	0.161469	0.56097	D	0.000040	T	0.46889	0.1416	M	0.61703	1.905	0.53005	D	0.999964	D;D;D	0.89917	1.0;0.999;0.999	P;P;P	0.56216	0.794;0.719;0.724	T	0.47586	-0.9106	10	0.66056	D	0.02	-6.1914	8.616	0.33831	0.0779:0.0:0.7714:0.1507	.	304;304;304	B4DSL9;B3KQ21;Q9NYH9	.;.;UTP6_HUMAN	W	304	ENSP00000261708:R304W	ENSP00000261708:R304W	R	-	1	2	UTP6	27231762	1.000000	0.71417	0.425000	0.26659	0.286000	0.27126	6.193000	0.72075	1.314000	0.45095	0.563000	0.77884	CGG		0.488	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256265.2	NM_018428		52	82	0	0	0	1	0	52	82				
HPS6	79803	broad.mit.edu	37	10	103825421	103825421	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr10:103825421delG	ENST00000299238.5	+	1	275	c.190delG	c.(190-192)ggcfs	p.G64fs		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	64					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GCGAGGGCCCGGCGCGGAGCT	0.761									Hermansky-Pudlak syndrome																													ENST00000299238.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(190-192)gcfs		Hermansky-Pudlak syndrome 6							3.0	4.0	3.0					10																	103825421		1210	2618	3828	SO:0001589	frameshift_variant	79803	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103825421delG	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.190delG	10.37:g.103825421delG	ENSP00000299238:p.Gly64fs						p.G64fs	NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	275	+		Colorectal(252;0.122)	64					Q5VV69|Q9H685	Frame_Shift_Del	DEL	ENST00000299238.5	37	c.190delG	CCDS7527.1																																																																																				0.761	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		2	4						2	4	---	---	---	---
TMEM199	147007	broad.mit.edu	37	17	26684394	26684395	+	5'Flank	INS	-	-	G	rs202089331|rs17856014	byFrequency	TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr17:26684394_26684395insG	ENST00000292114.3	+	0	0				TMEM199_ENST00000509083.1_5'Flank|TMEM199_ENST00000395404.3_5'Flank|POLDIP2_ENST00000540200.1_Splice_Site|CTB-96E2.3_ENST00000591482.1_RNA|POLDIP2_ENST00000003607.4_5'UTR	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGAGCGGCTTTGCCACCGGGCC	0.762																																						ENST00000540200.1																			0											c.e1+1		polymerase (DNA-directed), delta interacting protein 2				2770,50		1380,10,20						0.4	0.1		dbSNP_130	4	6440,112		3203,34,39	no	frameshift	POLDIP2	NM_015584.3		4583,44,59	A1A1,A1R,RR		1.7094,1.773,1.7286				9210,162				SO:0001631	upstream_gene_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26684394_26684395insG	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26684395_26684395dupG	Exception_encountered					POLDIP2_ENST00000003607.4_5'UTR		NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	1	78	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)								Splice_Site	INS	ENST00000292114.3	37		CCDS11228.1																																																																																				0.762	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		6	10						6	10	---	---	---	---
