#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	T	T	C			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	T	T	T	C	T	T	Verified	Invalid:failed_liftOver	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chrUnknown:0T>C								None (None upstream) : None (None downstream)																								0.0																																						dbGAP											0			MT																																								9731	SO:0001628	intergenic_variant	0																															Unknown.37:g.0T>C		Somatic	2658	2.62	72		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	9731	348	77.32	1200		Missense_Mutation	SNP	HMMPfam_COX3,superfamily_CytC_oxdse_III	p.L175P		37	c.524		MT																																																																																			-	HMMPfam_COX3,superfamily_CytC_oxdse_III	0	0					MT-CO3			T			9731	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000362079	ensembl	human	known	54_36p	missense	SNP	NULL	C
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	T	T	C			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	T	T	T	C	T	T	Verified	Invalid:failed_liftOver	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chrUnknown:0T>C								None (None upstream) : None (None downstream)																								0.0																																						dbGAP											0			MT																																								13370	SO:0001628	intergenic_variant	0																															Unknown.37:g.0T>C		Somatic	1701	0.75	13		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	13370	962	11.70	128		Missense_Mutation	SNP	HMMPfam_Oxidored_q1_N,HMMPfam_Oxidored_q1,HMMPfam_NADH5_C	p.S345P		37	c.1033		MT																																																																																			-	HMMPfam_Oxidored_q1	0	0					MT-ND5			T			13370	+1	no_errors	ENST00000361567	ensembl	human	known	54_36p	missense	SNP	NULL	C
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	T	T	C			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	T	T	T	C	T	T	Verified	Invalid:failed_liftOver	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chrUnknown:0T>C								None (None upstream) : None (None downstream)																								0.0																																						dbGAP											0			MT																																								13763	SO:0001628	intergenic_variant	0																															Unknown.37:g.0T>C		Somatic	801	2.52	21		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	13763	242	47.05	215		Missense_Mutation	SNP	HMMPfam_Oxidored_q1_N,HMMPfam_Oxidored_q1,HMMPfam_NADH5_C	p.S476P		37	c.1426		MT																																																																																			-	HMMPfam_NADH5_C	0	0					MT-ND5			T			13763	+1	no_errors	ENST00000361567	ensembl	human	known	54_36p	missense	SNP	NULL	C
CXorf58	254158	genome.wustl.edu	37	X	23953460	23953460	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chrX:23953460C>T	ENST00000379211.3	+	7	1252	c.703C>T	c.(703-705)Cga>Tga	p.R235*		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	235										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AAACCGTCTACGAAATGAAAT	0.378																																						dbGAP											0			X											86.0	77.0	80.0					X																	23953460		2203	4300	6503	23863381	SO:0001587	stop_gained	0			AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.703C>T	X.37:g.23953460C>T	ENSP00000368511:p.Arg235*	Somatic	131	1.49	2		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	23863381	79	35.25	43		Nonsense_Mutation	SNP	NULL	p.R235*	ENST00000379211.3	37	c.703	CCDS14209.1	X	.	.	.	.	.	.	.	.	.	.	c	39	7.584849	0.98374	.	.	ENSG00000165182	ENST00000379211	.	.	.	6.07	3.28	0.37604	.	0.977993	0.08374	N	0.955636	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0082	7.8706	0.29563	0.5601:0.361:0.0:0.0789	.	.	.	.	X	235	.	ENSP00000368511:R235X	R	+	1	2	CXorf58	23863381	0.924000	0.31332	0.054000	0.19295	0.620000	0.37586	0.584000	0.23864	0.249000	0.21456	0.540000	0.68198	CGA	-	NULL		0.378	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf58	protein_coding	OTTHUMT00000056071.1	C	NM_152761		23863381	+1	no_errors	NM_152761.1	genbank	human	predicted	54_36p	nonsense	SNP	0.770	T
SRPX	8406	genome.wustl.edu	37	X	38016254	38016254	+	Silent	SNP	C	C	T			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chrX:38016254C>T	ENST00000378533.3	-	8	1090	c.984G>A	c.(982-984)acG>acA	p.T328T	SRPX_ENST00000544439.1_Silent_p.T308T|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000343800.6_Silent_p.T315T|SRPX_ENST00000538295.1_Silent_p.T328T|SRPX_ENST00000432886.2_Silent_p.T269T	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	328					autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GTGCAGCTGCCGTTCTGACAC	0.502																																						dbGAP											0			X											113.0	94.0	101.0					X																	38016254		2202	4300	6502	37901198	SO:0001819	synonymous_variant	0			U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.984G>A	X.37:g.38016254C>T		Somatic	132	0.75	1		3	0.00	0	WXS	Illumina HiSeq	Phase_IV	37901198	95	30.43	42	A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Silent	SNP	HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_HYR,superfamily_Complement control module/SCR domain	p.T328	ENST00000378533.3	37	c.984	CCDS14245.1	X																																																																																			-	NULL		0.502	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX	protein_coding	OTTHUMT00000056243.1	C	NM_006307		37901198	-1	no_errors	NM_006307.3	genbank	human	provisional	54_36p	silent	SNP	0.437	T
AKR7A2	8574	genome.wustl.edu	37	1	19632540	19632540	+	Missense_Mutation	SNP	C	C	G	rs199970984		TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr1:19632540C>G	ENST00000235835.3	-	6	911	c.890G>C	c.(889-891)cGg>cCg	p.R297P	RNU6-1099P_ENST00000363533.1_RNA	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	297					carbohydrate metabolic process (GO:0005975)|cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|phenanthrene-9,10-epoxide hydrolase activity (GO:0019119)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTACATCCACCGGAGGGCAGC	0.627																																						dbGAP											0			1											67.0	66.0	67.0					1																	19632540		2203	4300	6503	19505127	SO:0001583	missense	0			AF026947	CCDS194.1	1p36.13	2010-09-30			ENSG00000053371	ENSG00000053371		"""Aldo-keto reductases"""	389	protein-coding gene	gene with protein product		603418				9576847	Standard	NM_003689		Approved	AFAR	uc001bbw.3	O43488	OTTHUMG00000002522	ENST00000235835.3:c.890G>C	1.37:g.19632540C>G	ENSP00000235835:p.Arg297Pro	Somatic	56	0.00	0		22	37.14	13	WXS	Illumina HiSeq	Phase_IV	19505127	10	56.52	13	O75749|Q5TG63	Missense_Mutation	SNP	HMMPfam_Aldo_ket_red,superfamily_Aldo/ket_red	p.R297P	ENST00000235835.3	37	c.890	CCDS194.1	1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272605	0.59649	.	.	ENSG00000053371	ENST00000235835;ENST00000330072;ENST00000489286	T;T	0.28895	1.59;1.59	3.84	2.93	0.34026	NADP-dependent oxidoreductase domain (3);	0.057763	0.64402	D	0.000001	T	0.59211	0.2177	H	0.97291	3.975	0.49798	D	0.999822	P	0.49090	0.919	P	0.53760	0.734	T	0.69206	-0.5206	10	0.66056	D	0.02	.	9.6024	0.39612	0.0:0.8944:0.0:0.1056	.	297	O43488	ARK72_HUMAN	P	297;252;159	ENSP00000235835:R297P;ENSP00000339084:R252P	ENSP00000235835:R297P	R	-	2	0	AKR7A2	19505127	1.000000	0.71417	0.913000	0.36048	0.511000	0.34104	4.456000	0.60081	0.961000	0.38030	-0.254000	0.11334	CGG	-	superfamily_Aldo/ket_red		0.627	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR7A2	protein_coding	OTTHUMT00000007165.2	C	NM_003689		19505127	-1	no_errors	NM_003689.2	genbank	human	validated	54_36p	missense	SNP	0.998	G
SLFNL1	200172	genome.wustl.edu	37	1	41483672	41483672	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr1:41483672C>T	ENST00000359345.1	-	2	3168	c.592G>A	c.(592-594)Gac>Aac	p.D198N	SLFNL1_ENST00000302946.8_Missense_Mutation_p.D198N|SLFNL1_ENST00000372613.2_Missense_Mutation_p.D198N|SLFNL1_ENST00000439569.2_Missense_Mutation_p.D198N|SLFNL1_ENST00000372611.1_Intron|SLFNL1_ENST00000397197.2_Missense_Mutation_p.D198N	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	198							ATP binding (GO:0005524)			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				ATGGCACTGTCGGAGCACACG	0.662																																						dbGAP											0			1											23.0	19.0	20.0					1																	41483672		2203	4298	6501	41256259	SO:0001583	missense	0			BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.592G>A	1.37:g.41483672C>T	ENSP00000352299:p.Asp198Asn	Somatic	18	0.00	0		6	40.00	4	WXS	Illumina HiSeq	Phase_IV	41256259	28	33.33	14	A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Missense_Mutation	SNP	HMMPfam_AAA_4	p.D198N	ENST00000359345.1	37	c.592	CCDS460.1	1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639835	0.67244	.	.	ENSG00000171790	ENST00000302946;ENST00000372613;ENST00000359345;ENST00000439569;ENST00000397197	T;T;T;T;T	0.36157	1.28;1.27;1.28;1.28;1.27	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000005	T	0.56016	0.1957	L	0.59436	1.845	0.35464	D	0.796778	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.66436	-0.5924	10	0.62326	D	0.03	-61.7876	14.3228	0.66499	0.0:1.0:0.0:0.0	.	198;198	Q499Z3-3;Q499Z3	.;SLNL1_HUMAN	N	198	ENSP00000304401:D198N;ENSP00000361696:D198N;ENSP00000352299:D198N;ENSP00000398938:D198N;ENSP00000380381:D198N	ENSP00000304401:D198N	D	-	1	0	SLFNL1	41256259	0.999000	0.42202	0.933000	0.37362	0.253000	0.25986	5.236000	0.65354	2.436000	0.82500	0.561000	0.74099	GAC	-	NULL		0.662	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLFNL1	protein_coding	OTTHUMT00000015650.1	C	NM_144990		41256259	-1	no_errors	NM_144990.2	genbank	human	provisional	54_36p	missense	SNP	0.971	T
PRELP	5549	genome.wustl.edu	37	1	203452870	203452870	+	Silent	SNP	C	C	A			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr1:203452870C>A	ENST00000343110.2	+	2	685	c.558C>A	c.(556-558)atC>atA	p.I186I		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	186					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			TCTCCAGAATCCCGCCTGGTG	0.602																																						dbGAP											0			1											71.0	78.0	76.0					1																	203452870		2203	4300	6503	201719493	SO:0001819	synonymous_variant	0			BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.558C>A	1.37:g.203452870C>A		Somatic	64	1.52	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	201719493	35	38.60	22	Q6FG38	Silent	SNP	HMMPfam_LRRNT,HMMSmart_SM00013,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like	p.I186	ENST00000343110.2	37	c.558	CCDS1438.1	1																																																																																			-	HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like		0.602	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRELP	protein_coding	OTTHUMT00000087474.1	C	NM_002725		201719493	+1	no_errors	NM_002725.3	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179484779	179484779	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr2:179484779A>C	ENST00000591111.1	-	199	41666	c.41442T>G	c.(41440-41442)gaT>gaG	p.D13814E	TTN_ENST00000589042.1_Missense_Mutation_p.D15455E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D12887E|TTN-AS1_ENST00000589487.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000342175.6_Missense_Mutation_p.D6582E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D6515E|TTN_ENST00000460472.2_Missense_Mutation_p.D6390E|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13814	Ig-like 94.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACACTCATCATCCAGCCTGC	0.363																																						dbGAP											0			2											132.0	122.0	126.0					2																	179484779		1855	4122	5977	179193024	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41442T>G	2.37:g.179484779A>C	ENSP00000465570:p.Asp13814Glu	Somatic	109	2.68	3		3	0.00	0	WXS	Illumina HiSeq	Phase_IV	179193024	70	32.04	33	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Protein kinase-like (PK-like),superfamily_WD40 repeat-like,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,HMMPfam_Pkinase,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses	p.D11437E	ENST00000591111.1	37	c.34311		2	.	.	.	.	.	.	.	.	.	.	A	11.10	1.540683	0.27563	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	5.73	0.545	0.17190	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58090	0.2098	N	0.17764	0.52	0.30200	N	0.798732	B;B;B;B	0.11235	0.001;0.001;0.002;0.004	B;B;B;B	0.16722	0.01;0.01;0.01;0.016	T	0.55354	-0.8154	9	0.87932	D	0	.	8.2885	0.31943	0.421:0.4506:0.1284:0.0	.	6390;6515;6582;13814	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	12887;6390;6582;6515;6390	ENSP00000343764:D12887E;ENSP00000434586:D6390E;ENSP00000340554:D6582E;ENSP00000352154:D6515E	ENSP00000340554:D6582E	D	-	3	2	TTN	179193024	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.686000	0.37669	0.161000	0.19458	-0.313000	0.08912	GAT	-	HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses		0.363	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	A	NM_133378		179193024	-1	no_errors	ENST00000375038	ensembl	human	known	54_36p	missense	SNP	1.000	C
MST1R	4486	genome.wustl.edu	37	3	49936337	49936337	+	Missense_Mutation	SNP	C	C	T	rs138183686		TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr3:49936337C>T	ENST00000296474.3	-	3	1538	c.1511G>A	c.(1510-1512)cGt>cAt	p.R504H	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.R504H	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	504	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.		R -> C (in dbSNP:rs34350470). {ECO:0000269|PubMed:17344846}.		cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GTCCCCAAGACGACTGACATC	0.597																																						dbGAP											0			3						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	94.0	96.0	95.0		1511	5.9	1.0	3	dbSNP_134	95	0,8600		0,0,4300	no	missense	MST1R	NM_002447.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	504/1401	49936337	1,13005	2203	4300	6503	49911341	SO:0001583	missense	0			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.1511G>A	3.37:g.49936337C>T	ENSP00000296474:p.Arg504His	Somatic	22	4.35	1		8	27.27	3	WXS	Illumina HiSeq	Phase_IV	49911341	17	34.62	9	B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain,HMMPfam_PSI,HMMSmart_SM00220,HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00423,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like),superfamily_E set domains,superfamily_Plexin repeat,PatternScan_PROTEIN_KINASE_ATP	p.R504H	ENST00000296474.3	37	c.1511	CCDS2807.1	3	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463583	0.63513	2.27E-4	0.0	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.11277	2.79;2.79	5.93	5.93	0.95920	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.222957	0.48767	D	0.000165	T	0.28101	0.0693	M	0.67953	2.075	0.36316	D	0.857976	B;P;D	0.89917	0.348;0.608;1.0	B;B;D	0.77004	0.248;0.248;0.989	T	0.08493	-1.0719	10	0.21014	T	0.42	-26.9727	12.6167	0.56580	0.0:0.9251:0.0:0.0749	.	504;504;504	Q04912-6;Q04912-5;Q04912	.;.;RON_HUMAN	H	504	ENSP00000296474:R504H;ENSP00000341325:R504H	ENSP00000296474:R504H	R	-	2	0	MST1R	49911341	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	1.667000	0.37471	2.815000	0.96918	0.561000	0.74099	CGT	-	HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain		0.597	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	protein_coding	OTTHUMT00000345403.1	C			49911341	-1	no_errors	NM_002447.2	genbank	human	validated	54_36p	missense	SNP	1.000	T
HIST1H3D	8351	genome.wustl.edu	37	6	26197396	26197396	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr6:26197396T>A	ENST00000356476.2	-	1	82	c.83A>T	c.(82-84)aAg>aTg	p.K28M	HIST1H3D_ENST00000377831.5_Missense_Mutation_p.K28M|HIST1H2BF_ENST00000359985.1_5'Flank			P68431	H31_HUMAN	histone cluster 1, H3d	28					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				TGGAGCGCTCTTTCGAGCAGC	0.647																																					GBM(108;3816 4467)	dbGAP											0			6											45.0	51.0	49.0					6																	26197396		2203	4300	6503	26305375	SO:0001583	missense	0			Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"""Histones / Replication-dependent"""	4767	protein-coding gene	gene with protein product		602811	"""H3 histone family, member B"", ""histone 1, H3d"""	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000356476.2:c.83A>T	6.37:g.26197396T>A	ENSP00000366999:p.Lys28Met	Somatic	18	0.00	0		61	38.00	38	WXS	Illumina HiSeq	Phase_IV	26305375	21	34.38	11	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Nonsense_Mutation	SNP	HMMSmart_SM00414,PatternScan_HISTONE_H2A,HMMPfam_Histone,superfamily_Histone-fold	p.R162*	ENST00000356476.2	37	c.484	CCDS4590.1	6	.	.	.	.	.	.	.	.	.	.	.	9.859	1.195697	0.22037	.	.	ENSG00000197409	ENST00000356476;ENST00000377831	T;T	0.49720	0.77;0.77	4.16	4.16	0.48862	.	.	.	.	.	T	0.50888	0.1642	.	.	.	0.39261	D	0.964216	.	.	.	.	.	.	T	0.59252	-0.7489	6	0.87932	D	0	.	12.6724	0.56874	0.0:0.0:0.0:1.0	.	.	.	.	M	28	ENSP00000366999:K28M;ENSP00000367062:K28M	ENSP00000366999:K28M	K	-	2	0	HIST1H3D	26305375	1.000000	0.71417	1.000000	0.80357	0.130000	0.20726	7.359000	0.79477	1.639000	0.50556	0.460000	0.39030	AAG	-	NULL		0.647	HIST1H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3D	protein_coding	OTTHUMT00000040096.1	T	NM_003530		26305375	-1	no_errors	ENST00000377831	ensembl	human	known	54_36p	nonsense	SNP	1.000	A
KCNU1	157855	genome.wustl.edu	37	8	36780102	36780102	+	Silent	SNP	G	G	A	rs368116235		TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr8:36780102G>A	ENST00000399881.3	+	24	2728	c.2691G>A	c.(2689-2691)acG>acA	p.T897T		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	897	Segment S10.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCTTTTCTACGGGCACTGTTT	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		16661	0.0		0.001	False		,,,				2504	0.0					dbGAP											0			8						G		0,3750		0,0,1875	119.0	114.0	116.0		2691	-10.8	0.0	8		116	1,8225		0,1,4112	no	coding-synonymous	KCNU1	NM_001031836.2		0,1,5987	AA,AG,GG		0.0122,0.0,0.0084		897/1150	36780102	1,11975	1875	4113	5988	36899260	SO:0001819	synonymous_variant	0			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2691G>A	8.37:g.36780102G>A		Somatic	80	1.23	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	36899260	71	44.96	58		Silent	SNP	HMMPfam_BK_channel_a,HMMPfam_Ion_trans,superfamily_NAD(P)-bd,superfamily_SSF81324	p.T897	ENST00000399881.3	37	c.2691	CCDS55220.1	8																																																																																			-	NULL		0.488	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	protein_coding	OTTHUMT00000376631.1	G	NM_001031836		36899260	+1	no_errors	NM_001031836.2	genbank	human	validated	54_36p	silent	SNP	0.932	A
BRINP1	1620	genome.wustl.edu	37	9	121971020	121971020	+	Silent	SNP	G	G	A			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr9:121971020G>A	ENST00000265922.3	-	7	1583	c.1122C>T	c.(1120-1122)ccC>ccT	p.P374P	BRINP1_ENST00000482797.1_5'UTR	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	374					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GCTGGTGGTTGGGATTGTGGC	0.557																																						dbGAP											0			9											193.0	167.0	176.0					9																	121971020		2203	4300	6503	121010841	SO:0001819	synonymous_variant	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1122C>T	9.37:g.121971020G>A		Somatic	95	1.04	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	121010841	131	35.47	72	Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	HMMSmart_SM00457	p.P374	ENST00000265922.3	37	c.1122	CCDS6822.1	9																																																																																			-	NULL		0.557	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBC1	protein_coding	OTTHUMT00000055440.2	G	NM_014618		121010841	-1	no_errors	NM_014618.2	genbank	human	validated	54_36p	silent	SNP	1.000	A
TACC2	10579	genome.wustl.edu	37	10	123970284	123970284	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr10:123970284C>T	ENST00000369005.1	+	9	6684	c.6344C>T	c.(6343-6345)aCg>aTg	p.T2115M	TACC2_ENST00000515273.1_Missense_Mutation_p.T2119M|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000358010.1_Missense_Mutation_p.T261M|TACC2_ENST00000368999.1_Missense_Mutation_p.T193M|TACC2_ENST00000369004.3_Missense_Mutation_p.T193M|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000260733.3_Missense_Mutation_p.T193M|TACC2_ENST00000334433.3_Missense_Mutation_p.T2115M|TACC2_ENST00000513429.1_Missense_Mutation_p.T261M|TACC2_ENST00000360561.3_Missense_Mutation_p.T193M|TACC2_ENST00000515603.1_Missense_Mutation_p.T2070M|TACC2_ENST00000453444.2_Missense_Mutation_p.T2119M	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2115					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCATATAGCACGGGTTCCAGC	0.547																																						dbGAP											0			10											83.0	87.0	86.0					10																	123970284		2203	4300	6503	123960274	SO:0001583	missense	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6344C>T	10.37:g.123970284C>T	ENSP00000358001:p.Thr2115Met	Somatic	100	1.94	2		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	123960274	50	32.43	24	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	HMMPfam_TACC	p.T2115M	ENST00000369005.1	37	c.6344	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365155	0.61513	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539	T;T;T;T;T;T;T;T;T;T;T;T	0.09445	3.87;3.49;3.96;3.95;3.87;3.49;3.96;3.36;3.39;3.39;3.36;2.98	5.64	4.74	0.60224	.	0.204788	0.24720	N	0.036154	T	0.27866	0.0686	L	0.57536	1.79	0.28391	N	0.919074	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.995;1.0;1.0;0.998;0.997;1.0;1.0	D;D;P;D;D;P;P;D;D	0.72338	0.975;0.964;0.81;0.977;0.964;0.853;0.907;0.96;0.977	T	0.04203	-1.0969	10	0.54805	T	0.06	-4.1943	12.8907	0.58069	0.0:0.9249:0.0:0.0751	.	210;2119;193;2070;2119;193;193;261;2115	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	M	2115;261;2119;2070;2115;261;2119;2105;193;193;193;193;210	ENSP00000358001:T2115M;ENSP00000425062:T261M;ENSP00000424467:T2119M;ENSP00000427618:T2070M;ENSP00000334280:T2115M;ENSP00000350701:T261M;ENSP00000395048:T2119M;ENSP00000353763:T193M;ENSP00000357995:T193M;ENSP00000422815:T193M;ENSP00000260733:T193M;ENSP00000420967:T210M	ENSP00000260733:T193M	T	+	2	0	TACC2	123960274	0.277000	0.24220	0.755000	0.31263	0.803000	0.45373	2.624000	0.46444	1.390000	0.46547	0.655000	0.94253	ACG	-	NULL		0.547	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	protein_coding	OTTHUMT00000090004.1	C			123960274	+1	no_errors	NM_206862.2	genbank	human	reviewed	54_36p	missense	SNP	0.962	T
OR4C6	219432	genome.wustl.edu	37	11	55433284	55433284	+	Silent	SNP	G	G	A	rs201210743	byFrequency	TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr11:55433284G>A	ENST00000314259.3	+	1	671	c.642G>A	c.(640-642)gcG>gcA	p.A214A		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCTTAATTGCGTCCTACACGG	0.517													g|||	2	0.000399361	0.0	0.0	5008	,	,		18516	0.001		0.001	False		,,,				2504	0.0					dbGAP											0			11						G		0,4400		0,0,2200	139.0	123.0	129.0		642	-1.8	0.0	11		129	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	OR4C6	NM_001004704.1		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		214/310	55433284	1,12991	2200	4296	6496	55189860	SO:0001819	synonymous_variant	0			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.642G>A	11.37:g.55433284G>A		Somatic	113	3.39	4		2	0.00	0	WXS	Illumina HiSeq	Phase_IV	55189860	121	39.50	79	B2RP11|Q6IFD2	Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.A214	ENST00000314259.3	37	c.642	CCDS31506.1	11																																																																																			-	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like		0.517	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C6	protein_coding	OTTHUMT00000391504.1	G	NM_001004704		55189860	+1	no_errors	NM_001004704.1	genbank	human	provisional	54_36p	silent	SNP	0.001	A
DAGLA	747	genome.wustl.edu	37	11	61503096	61503096	+	Silent	SNP	C	C	A			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr11:61503096C>A	ENST00000257215.5	+	11	1308	c.1192C>A	c.(1192-1194)Cgg>Agg	p.R398R		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	398					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GATCAGTATCCGGGGGACCCT	0.642																																						dbGAP											0			11											70.0	76.0	74.0					11																	61503096		2202	4299	6501	61259672	SO:0001819	synonymous_variant	0			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1192C>A	11.37:g.61503096C>A		Somatic	24	0.00	0		1	75.00	3	WXS	Illumina HiSeq	Phase_IV	61259672	18	17.39	4	A7E233|Q6WQJ0	Silent	SNP	HMMPfam_Lipase_3,PatternScan_LIPASE_SER,superfamily_SSF53474	p.R398	ENST00000257215.5	37	c.1192	CCDS31578.1	11																																																																																			-	HMMPfam_Lipase_3,superfamily_SSF53474		0.642	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	protein_coding	OTTHUMT00000398516.1	C	NM_006133		61259672	+1	no_errors	NM_006133.1	genbank	human	validated	54_36p	silent	SNP	1.000	A
SH2B3	10019	genome.wustl.edu	37	12	111885536	111885536	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr12:111885536T>A	ENST00000341259.2	+	7	1670	c.1313T>A	c.(1312-1314)cTc>cAc	p.L438H	SH2B3_ENST00000538307.1_Missense_Mutation_p.L236H	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	438	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic hemopoiesis (GO:0035162)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)	phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	GTGGACATGCTCCACCACTTC	0.662																																						dbGAP											0			12											62.0	53.0	56.0					12																	111885536		2203	4300	6503	110369919	SO:0001583	missense	0			AF055581	CCDS9153.1	12q24.12	2014-09-17				ENSG00000111252		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	29605	protein-coding gene	gene with protein product	"""lymphocyte adaptor protein"""	605093				10799879	Standard	NM_005475		Approved	LNK, IDDM20	uc001tse.3	Q9UQQ2		ENST00000341259.2:c.1313T>A	12.37:g.111885536T>A	ENSP00000345492:p.Leu438His	Somatic	37	0.00	0		57	43.56	44	WXS	Illumina HiSeq	Phase_IV	110369919	17	52.78	19	B9EGG5|O95184	Missense_Mutation	SNP	HMMPfam_SH2,HMMSmart_SM00252,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Phe_ZIP,superfamily_Phenylalanine zipper,superfamily_PH domain-like,superfamily_SH2 domain	p.L438H	ENST00000341259.2	37	c.1313	CCDS9153.1	12	.	.	.	.	.	.	.	.	.	.	T	23.5	4.421567	0.83559	.	.	ENSG00000111252	ENST00000341259;ENST00000551001;ENST00000538307	T;T	0.66280	-0.2;-0.2	5.05	5.05	0.67936	SH2 motif (5);	0.000000	0.85682	D	0.000000	T	0.82231	0.4992	M	0.92923	3.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85860	0.1409	10	0.87932	D	0	-9.2935	10.989	0.47539	0.1479:0.0:0.0:0.8521	.	236;302;438	F5GYM4;Q59H48;Q9UQQ2	.;.;SH2B3_HUMAN	H	438;248;236	ENSP00000345492:L438H;ENSP00000440597:L236H	ENSP00000345492:L438H	L	+	2	0	SH2B3	110369919	1.000000	0.71417	0.938000	0.37757	0.974000	0.67602	7.633000	0.83260	2.040000	0.60383	0.379000	0.24179	CTC	-	HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain		0.662	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	SH2B3	protein_coding	OTTHUMT00000404779.1	T	NM_005475		110369919	+1	no_errors	NM_005475.2	genbank	human	validated	54_36p	missense	SNP	0.965	A
DIS3	22894	genome.wustl.edu	37	13	73337717	73337717	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr13:73337717T>C	ENST00000377767.4	-	16	2099	c.1999A>G	c.(1999-2001)Atg>Gtg	p.M667V	DIS3_ENST00000377780.4_Missense_Mutation_p.M637V|DIS3_ENST00000545453.1_Missense_Mutation_p.M505V	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	667					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		GCAAGTAACATAAATTCTTCA	0.328										Multiple Myeloma(4;0.011)																												dbGAP											0			13											42.0	44.0	43.0					13																	73337717		2203	4300	6503	72235718	SO:0001583	missense	0			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1999A>G	13.37:g.73337717T>C	ENSP00000366997:p.Met667Val	Somatic	54	0.00	0		15	28.57	6	WXS	Illumina HiSeq	Phase_IV	72235718	85	37.04	50	A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	HMMPfam_RNB,PatternScan_RIBONUCLEASE_II,HMMSmart_SM00670,superfamily_PIN domain-like	p.M667V	ENST00000377767.4	37	c.1999	CCDS9447.1	13	.	.	.	.	.	.	.	.	.	.	T	24.1	4.495576	0.85069	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.51817	0.69;0.69;0.69	5.74	5.74	0.90152	Ribonuclease II/R (2);	0.071365	0.85682	D	0.000000	D	0.83801	0.5333	H	0.99777	4.77	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.993;0.999	D	0.91559	0.5263	10	0.87932	D	0	.	16.0499	0.80749	0.0:0.0:0.0:1.0	.	637;667	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	V	667;637;505	ENSP00000366997:M667V;ENSP00000367011:M637V;ENSP00000440058:M505V	ENSP00000366997:M667V	M	-	1	0	DIS3	72235718	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.015000	0.88690	2.193000	0.70182	0.533000	0.62120	ATG	-	HMMPfam_RNB		0.328	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3	protein_coding	OTTHUMT00000045250.2	T	NM_014953		72235718	-1	no_errors	NM_014953.1	genbank	human	validated	54_36p	missense	SNP	1.000	C
PRKD1	5587	genome.wustl.edu	37	14	30093424	30093424	+	Silent	SNP	G	G	A			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr14:30093424G>A	ENST00000331968.5	-	13	2068	c.1839C>T	c.(1837-1839)atC>atT	p.I613I	PRKD1_ENST00000415220.2_Silent_p.I621I	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	613	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ATTTGTCAATGATTTTAATAG	0.323																																						dbGAP											0			14											154.0	143.0	147.0					14																	30093424		2201	4299	6500	29163175	SO:0001819	synonymous_variant	0				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1839C>T	14.37:g.30093424G>A		Somatic	104	1.87	2		1	0.00	0	WXS	Illumina HiSeq	Phase_IV	29163175	135	42.55	100	A6NL64|B2RAF6	Silent	SNP	HMMPfam_PH,HMMSmart_PH,HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF50729,superfamily_SSF57889	p.I613	ENST00000331968.5	37	c.1839	CCDS9637.1	14																																																																																			-	HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase		0.323	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	protein_coding	OTTHUMT00000276611.2	G	NM_002742		29163175	-1	no_errors	NM_002742.2	genbank	human	validated	54_36p	silent	SNP	0.995	A
SLC24A4	123041	genome.wustl.edu	37	14	92908517	92908517	+	Splice_Site	SNP	G	G	C			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr14:92908517G>C	ENST00000532405.1	+	5	704	c.478G>C	c.(478-480)Ggg>Cgg	p.G160R	SLC24A4_ENST00000298877.1_Splice_Site_p.G143R|SLC24A4_ENST00000351924.5_Splice_Site_p.G143R|SLC24A4_ENST00000531433.1_Splice_Site_p.G160R|SLC24A4_ENST00000393265.2_Splice_Site_p.G96R			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	160					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GTCTGTTATTGGTAAGAAATC	0.527																																					NSCLC(10;315 435 10383 28450 38798)	dbGAP											0			14											71.0	65.0	67.0					14																	92908517		2203	4300	6503	91978270	SO:0001630	splice_region_variant	0			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.478+1G>C	14.37:g.92908517G>C		Somatic	47	6.00	3		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	91978270	79	25.47	27	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	HMMPfam_Na_Ca_ex	p.G143R	ENST00000532405.1	37	c.427	CCDS9903.2	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.947702|3.947702	0.73787|0.73787	.|.	.|.	ENSG00000140090|ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924;ENST00000318079;ENST00000554461|ENST00000525557	T;T;T;T;T;T|.	0.63255|.	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03|.	5.33|5.33	5.33|5.33	0.75918|0.75918	Sodium/calcium exchanger membrane region (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87920|0.87920	0.6299|0.6299	H|H	0.95504|0.95504	3.68|3.68	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.97110|.	1.0;1.0;0.998|.	D|D	0.91188|0.91188	0.4981|0.4981	10|5	0.87932|.	D|.	0|.	.|.	19.4129|19.4129	0.94683|0.94683	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	160;96;160|.	Q8NFF2-3;Q8NFF2-2;Q8NFF2|.	.;.;NCKX4_HUMAN|.	R|S	96;160;160;143;143;51;51|44	ENSP00000376948:G96R;ENSP00000433302:G160R;ENSP00000431840:G160R;ENSP00000298877:G143R;ENSP00000337789:G143R;ENSP00000452099:G51R|.	ENSP00000298877:G143R|.	G|W	+|+	1|2	0|0	SLC24A4|SLC24A4	91978270|91978270	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.155000|0.155000	0.21991|0.21991	9.524000|9.524000	0.98036|0.98036	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	GGG|TGG	-	HMMPfam_Na_Ca_ex		0.527	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	SLC24A4	protein_coding	OTTHUMT00000395240.1	G	NM_153646	Missense_Mutation	91978270	+1	no_errors	NM_153646.2	genbank	human	validated	54_36p	missense	SNP	1.000	C
MOK	5891	genome.wustl.edu	37	14	102700054	102700054	+	Silent	SNP	G	G	A	rs139034681	byFrequency	TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr14:102700054G>A	ENST00000361847.2	-	8	894	c.663C>T	c.(661-663)ccC>ccT	p.P221P	MOK_ENST00000561150.1_5'UTR|MOK_ENST00000522534.1_5'UTR|MOK_ENST00000522874.1_Silent_p.P220P|MOK_ENST00000524214.1_Silent_p.P191P|MOK_ENST00000523231.1_5'UTR|MOK_ENST00000517966.1_5'UTR|MOK_ENST00000519058.1_5'UTR|MOK_ENST00000520266.1_5'UTR|MOK_ENST00000524370.1_5'UTR|MOK_ENST00000193029.6_5'UTR|MOK_ENST00000522867.1_5'UTR	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P221P(1)									TCTTCTGAGCGGGTGTGCCGA	0.537													A|||	2	0.000399361	0.0008	0.0	5008	,	,		20186	0.0		0.001	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	lung(1)	14						A		1,4405		0,1,2202	215.0	169.0	185.0		663	-1.3	0.0	14	dbSNP_134	185	0,8600		0,0,4300	no	coding-synonymous	MOK	NM_014226.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		221/420	102700054	1,13005	2203	4300	6503	101769807	SO:0001819	synonymous_variant	0			AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"""renal tumor antigen"""	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.663C>T	14.37:g.102700054G>A		Somatic	126	0.78	1		2	0.00	0	WXS	Illumina HiSeq	Phase_IV	101769807	205	31.44	94	B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Silent	SNP	HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase	p.P221	ENST00000361847.2	37	c.663	CCDS9971.1	14																																																																																			-	HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase		0.537	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAGE	protein_coding	OTTHUMT00000380848.3	G			101769807	-1	no_errors	NM_014226.1	genbank	human	provisional	54_36p	silent	SNP	0.089	A
ST8SIA2	8128	genome.wustl.edu	37	15	92977522	92977522	+	Silent	SNP	C	C	T			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr15:92977522C>T	ENST00000268164.3	+	3	444	c.207C>T	c.(205-207)gaC>gaT	p.D69D	ST8SIA2_ENST00000539113.1_Silent_p.D48D	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	69					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CTGTTGTTGACAGAAGTAATG	0.453																																						dbGAP											0			15											163.0	140.0	148.0					15																	92977522		2198	4298	6496	90778526	SO:0001819	synonymous_variant	0			U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.207C>T	15.37:g.92977522C>T		Somatic	66	1.47	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	90778526	79	34.17	41	Q4VAZ0|Q92470|Q92746	Silent	SNP	HMMPfam_Glyco_transf_29	p.D69	ENST00000268164.3	37	c.207	CCDS10372.1	15																																																																																			-	NULL		0.453	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA2	protein_coding	OTTHUMT00000313526.1	C	NM_006011		90778526	+1	no_errors	NM_006011.3	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
CHST6	4166	genome.wustl.edu	37	16	75513159	75513159	+	Missense_Mutation	SNP	C	C	G	rs529839563	byFrequency	TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr16:75513159C>G	ENST00000332272.4	-	3	747	c.568G>C	c.(568-570)Gac>Cac	p.D190H	CHST6_ENST00000390664.2_Missense_Mutation_p.D190H|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	190					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGCGCGGGGTCGCTGAGCAGC	0.692																																						dbGAP											0			16											44.0	46.0	45.0					16																	75513159		2196	4299	6495	74070660	SO:0001583	missense	0			AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.568G>C	16.37:g.75513159C>G	ENSP00000328983:p.Asp190His	Somatic	16	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	74070660	9	30.77	4	D3DUK3	Missense_Mutation	SNP	HMMPfam_Sulfotransfer_1,superfamily_SSF52540	p.D190H	ENST00000332272.4	37	c.568	CCDS10918.1	16	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708570	0.68615	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.97598	-4.45;-4.45	4.68	4.68	0.58851	Sulfotransferase domain (1);	0.051262	0.85682	D	0.000000	D	0.98720	0.9570	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99744	1.1016	10	0.87932	D	0	.	15.0725	0.72049	0.0:1.0:0.0:0.0	.	190	Q9GZX3	CHST6_HUMAN	H	190	ENSP00000328983:D190H;ENSP00000375079:D190H	ENSP00000328983:D190H	D	-	1	0	CHST6	74070660	1.000000	0.71417	0.835000	0.33067	0.595000	0.36748	7.758000	0.85224	2.132000	0.65825	0.591000	0.81541	GAC	-	HMMPfam_Sulfotransfer_1,superfamily_SSF52540		0.692	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CHST6	protein_coding	OTTHUMT00000435478.1	C	NM_021615		74070660	-1	no_errors	NM_021615.4	genbank	human	provisional	54_36p	missense	SNP	0.996	G
CRISPLD2	83716	genome.wustl.edu	37	16	84906115	84906115	+	Splice_Site	SNP	G	G	A			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr16:84906115G>A	ENST00000262424.5	+	9	1205		c.e9+1		CRISPLD2_ENST00000564567.1_Splice_Site|CRISPLD2_ENST00000567845.1_Splice_Site	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2						extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)			endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CTATGAAAGCGTGAGTGTGGC	0.463																																						dbGAP											0			16											152.0	125.0	134.0					16																	84906115		2199	4300	6499	83463616	SO:0001630	splice_region_variant	0			AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"""LCCL domain containing cysteine-rich secretory protein 2"""	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.981+1G>A	16.37:g.84906115G>A		Somatic	93	0.00	0		2	0.00	0	WXS	Illumina HiSeq	Phase_IV	83463616	99	36.13	56	D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Splice_Site	SNP	-	e8+1	ENST00000262424.5	37	c.981+1	CCDS10949.1	16	.	.	.	.	.	.	.	.	.	.	G	10.12	1.264306	0.23136	.	.	ENSG00000103196	ENST00000262424	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2014	0.65707	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CRISPLD2	83463616	1.000000	0.71417	0.616000	0.29078	0.019000	0.09904	5.484000	0.66844	2.481000	0.83766	0.561000	0.74099	.	-	-		0.463	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD2	protein_coding	OTTHUMT00000269086.2	G	NM_031476	Intron	83463616	+1	no_errors	NM_031476.3	genbank	human	validated	54_36p	splice_site	SNP	0.998	A
ASXL1	171023	genome.wustl.edu	37	20	31022234	31022234	+	Splice_Site	SNP	G	G	T			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr20:31022234G>T	ENST00000375687.4	+	13	2143		c.e13-1		ASXL1_ENST00000306058.5_Splice_Site	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1						bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TTTTTTTGCAGATTCAACTTT	0.468			"""F, N, Mis"""		"""MDS, CMML"""																																	dbGAP		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0			20											47.0	50.0	49.0					20																	31022234		2203	4300	6503	30485895	SO:0001630	splice_region_variant	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1720-1G>T	20.37:g.31022234G>T		Somatic	16	0.00	0		14	62.16	23	WXS	Illumina HiSeq	Phase_IV	30485895	39	33.90	20	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Splice_Site	SNP	-	e13-1	ENST00000375687.4	37	c.1720-1	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	G	19.81	3.895999	0.72639	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0625	0.93099	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASXL1	30485895	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.222000	0.95196	2.826000	0.97356	0.561000	0.74099	.	-	-		0.468	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	protein_coding	OTTHUMT00000078624.2	G	NM_015338	Intron	30485895	+1	no_errors	NM_015338.4	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	T
KRTAP24-1	643803	genome.wustl.edu	37	21	31654970	31654970	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr21:31654970G>A	ENST00000340345.4	-	1	306	c.281C>T	c.(280-282)cCc>cTc	p.P94L		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	94						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GGAGTTGCAGGGCACAGAGGA	0.567																																						dbGAP											0			21											73.0	77.0	75.0					21																	31654970		2078	4227	6305	30576841	SO:0001583	missense	0			AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"""Keratin associated proteins"""	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.281C>T	21.37:g.31654970G>A	ENSP00000339238:p.Pro94Leu	Somatic	78	4.88	4		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	30576841	121	36.32	69	Q1XDX0	Missense_Mutation	SNP	HMMPfam_PMG	p.P94L	ENST00000340345.4	37	c.281	CCDS42915.1	21	.	.	.	.	.	.	.	.	.	.	G	14.69	2.612176	0.46631	.	.	ENSG00000188694	ENST00000340345	T	0.03496	3.91	4.96	4.0	0.46444	.	0.465087	0.19868	N	0.104275	T	0.12774	0.0310	M	0.64997	1.995	0.44168	D	0.996978	D	0.69078	0.997	D	0.69142	0.962	T	0.00134	-1.2009	10	0.51188	T	0.08	-6.4021	10.5548	0.45110	0.0:0.196:0.804:0.0	.	94	Q3LI83	KR241_HUMAN	L	94	ENSP00000339238:P94L	ENSP00000339238:P94L	P	-	2	0	KRTAP24-1	30576841	0.964000	0.33143	0.966000	0.40874	0.183000	0.23260	1.756000	0.38390	2.674000	0.91012	0.591000	0.81541	CCC	-	HMMPfam_PMG		0.567	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP24-1	protein_coding	OTTHUMT00000246806.2	G	NM_001085455		30576841	-1	no_errors	NM_001085455.1	genbank	human	validated	54_36p	missense	SNP	0.980	A
RUNX1	861	genome.wustl.edu	37	21	36231783	36231783	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr21:36231783G>A	ENST00000344691.4	-	3	2097	c.520C>T	c.(520-522)Cga>Tga	p.R174*	RUNX1_ENST00000486278.2_Nonsense_Mutation_p.R177*|RUNX1_ENST00000325074.5_Nonsense_Mutation_p.R189*|RUNX1_ENST00000300305.3_Nonsense_Mutation_p.R201*|RUNX1_ENST00000437180.1_Nonsense_Mutation_p.R201*|RUNX1_ENST00000399240.1_Nonsense_Mutation_p.R174*|RUNX1_ENST00000358356.5_Nonsense_Mutation_p.R174*	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	174	Interaction with DNA.|Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.		R -> Q (in FPDMM; impaired phosphorylation). {ECO:0000269|PubMed:10508512, ECO:0000269|PubMed:18695000}.		behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R201*(5)|p.R201G(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CGAGGTTCTCGGGGCCCATCC	0.552			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	6	Substitution - Nonsense(5)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(5)|large_intestine(1)	21	GRCh37	CM992141	RUNX1	M							274.0	240.0	251.0					21																	36231783		2203	4300	6503	35153653	SO:0001587	stop_gained	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.520C>T	21.37:g.36231783G>A	ENSP00000340690:p.Arg174*	Somatic	106	3.60	4		437	43.34	335	WXS	Illumina HiSeq	Phase_IV	35153653	48	33.33	24	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Nonsense_Mutation	SNP	superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI	p.R201*	ENST00000344691.4	37	c.601	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	G	40	8.081424	0.98643	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278	.	.	.	5.12	4.21	0.49690	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7194	12.147	0.54028	0.0:0.0:0.8085:0.1914	.	.	.	.	X	174;201;201;189;174;177;174;189;177	.	ENSP00000300305:R201X	R	-	1	2	RUNX1	35153653	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.798000	0.47884	1.088000	0.41272	0.655000	0.94253	CGA	-	superfamily_p53-like transcription factors,HMMPfam_Runt		0.552	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	G			35153653	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
RUNX1	861	genome.wustl.edu	37	21	36252876	36252876	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr21:36252876C>A	ENST00000344691.4	-	2	1982	c.405G>T	c.(403-405)agG>agT	p.R135S	RUNX1_ENST00000486278.2_Missense_Mutation_p.R138S|RUNX1_ENST00000325074.5_Missense_Mutation_p.R150S|RUNX1_ENST00000300305.3_Missense_Mutation_p.R162S|RUNX1_ENST00000437180.1_Missense_Mutation_p.R162S|RUNX1_ENST00000399240.1_Missense_Mutation_p.R135S|RUNX1_ENST00000358356.5_Missense_Mutation_p.R135S	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	135	Interaction with DNA.|Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.N159fs*49(1)|p.R162S(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GACCGACAAACCTGAGGTCAT	0.438			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	2	Substitution - Missense(1)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(2)	21											122.0	108.0	113.0					21																	36252876		2203	4300	6503	35174746	SO:0001583	missense	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.405G>T	21.37:g.36252876C>A	ENSP00000340690:p.Arg135Ser	Somatic	53	0.00	0		292	57.66	399	WXS	Illumina HiSeq	Phase_IV	35174746	8	42.86	6	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI	p.R162S	ENST00000344691.4	37	c.486	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289625	0.80914	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278	D;D;D;D;D;D;D;D	0.99706	-6.47;-6.47;-6.47;-6.47;-6.47;-6.47;-6.47;-6.47	5.31	4.18	0.49190	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99600	0.9855	M	0.91300	3.195	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.983;0.976;0.999;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.997;0.987;0.981;0.998;0.999;0.998	D	0.99564	1.0969	10	0.87932	D	0	-23.5262	2.8345	0.05510	0.0:0.4709:0.2714:0.2577	.	162;135;135;138;162;150;135	Q2TAM6;Q01196-5;Q01196-3;C9JK12;Q01196-8;Q01196-10;Q01196	.;.;.;.;.;.;RUNX1_HUMAN	S	135;162;162;150;135;138;135;150;138	ENSP00000340690:R135S;ENSP00000300305:R162S;ENSP00000409227:R162S;ENSP00000319459:R150S;ENSP00000382184:R135S;ENSP00000351123:R135S;ENSP00000382182:R150S;ENSP00000438019:R138S	ENSP00000300305:R162S	R	-	3	2	RUNX1	35174746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.769000	0.38522	2.652000	0.90054	0.655000	0.94253	AGG	-	superfamily_p53-like transcription factors,HMMPfam_Runt		0.438	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	C			35174746	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
SUMO2	6613	genome.wustl.edu	37	17	73170871	73170872	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	-	-	-	TA	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr17:73170871_73170872insTA	ENST00000578238.1	-	3	360_361	c.71_72insTA	c.(70-72)atcfs	p.I24fs	SUMO2_ENST00000420826.2_Frame_Shift_Ins_p.I67fs|SUMO2_ENST00000314523.7_Intron					small ubiquitin-like modifier 2											NS(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					CTGTTTCATTGATTGGTTGCCC	0.342																																						dbGAP											0			17																																								70682467	SO:0001589	frameshift_variant	0				CCDS45773.1, CCDS45774.1	17q25	2013-06-05	2013-06-05	2004-05-19	ENSG00000188612	ENSG00000188612			11125	protein-coding gene	gene with protein product		603042	"""SMT3 (suppressor of mif two 3, yeast) homolog 2"", ""SMT3 suppressor of mif two 3 homolog 2 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae)"""	SMT3H2		8630065	Standard	NM_006937		Approved	SMT3B	uc002jne.3	P61956		ENST00000578238.1:c.71_72insTA	17.37:g.73170871_73170872insTA	ENSP00000461997:p.Ile24fs	Somatic	125	0.79	1		4	20.00	1	WXS	Illumina HiSeq	Phase_IV	70682466	38	36.67	22		Frame_Shift_Ins	INS	HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like	p.N68fs	ENST00000578238.1	37	c.201_200		17																																																																																			-	HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like		0.342	SUMO2-003	PUTATIVE	basic|exp_conf	protein_coding	SUMO2	protein_coding	OTTHUMT00000446616.1	-	NM_006937		70682467	-1	no_errors	NM_006937.1	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:1.000	TA
TCF4	6925	genome.wustl.edu	37	18	52896119	52896120	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	-	-	-	G	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr18:52896119_52896120insG	ENST00000356073.4	-	18	2436_2437	c.1825_1826insC	c.(1825-1827)cagfs	p.Q609fs	TCF4_ENST00000564999.1_Frame_Shift_Ins_p.Q609fs|TCF4_ENST00000544241.2_Frame_Shift_Ins_p.Q542fs|TCF4_ENST00000566286.1_Frame_Shift_Ins_p.Q606fs|TCF4_ENST00000543082.1_Frame_Shift_Ins_p.Q567fs|TCF4_ENST00000540999.1_Frame_Shift_Ins_p.Q585fs|TCF4_ENST00000537856.3_Frame_Shift_Ins_p.Q479fs|TCF4_ENST00000567880.1_Frame_Shift_Ins_p.Q549fs|TCF4_ENST00000570287.2_Frame_Shift_Ins_p.Q449fs|TCF4_ENST00000568673.1_Frame_Shift_Ins_p.Q589fs|TCF4_ENST00000398339.1_Frame_Shift_Ins_p.Q715fs|TCF4_ENST00000561992.1_Frame_Shift_Ins_p.Q479fs|TCF4_ENST00000566279.1_Frame_Shift_Ins_p.Q553fs|TCF4_ENST00000565018.2_Frame_Shift_Ins_p.Q613fs|TCF4_ENST00000354452.3_Frame_Shift_Ins_p.Q613fs|TCF4_ENST00000564403.2_Frame_Shift_Ins_p.Q619fs|TCF4_ENST00000457482.3_Frame_Shift_Ins_p.Q453fs|TCF4_ENST00000564228.1_Frame_Shift_Ins_p.Q538fs|TCF4_ENST00000568740.1_Frame_Shift_Ins_p.Q584fs|TCF4_ENST00000561831.3_Frame_Shift_Ins_p.Q449fs|TCF4_ENST00000570177.2_Frame_Shift_Ins_p.Q479fs|TCF4_ENST00000537578.1_Frame_Shift_Ins_p.Q589fs	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	609	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GGCCACCGCCTGGTGGAGGATC	0.619																																						dbGAP											0			18																																								51047118	SO:0001589	frameshift_variant	0			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1826dupC	18.37:g.52896121_52896121dupG	ENSP00000348374:p.Gln609fs	Somatic	64	1.54	1		100	44.75	81	WXS	Illumina HiSeq	Phase_IV	51047117	50	26.47	18	B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Frame_Shift_Ins	INS	HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic	p.Q613fs	ENST00000356073.4	37	c.1838_1837	CCDS11960.1	18																																																																																			-	HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic		0.619	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	TCF4	protein_coding	OTTHUMT00000256014.1	-	NM_003199		51047118	-1	no_errors	NM_001083962.1	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:1.000	G
