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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr20:29628236G>C	uc010ztl.1	+	2	180	c.148G>C	c.(148-150)Gct>Cct	p.A50P	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.A2P					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A80P(8)|p.L50P(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													12	152					0	0	1	0	0
DMAP1	55929	broad.mit.edu	37	1	44680509	44680509	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr1:44680509T>G	uc001clq.1	+	3	412	c.332T>G	c.(331-333)tTc>tGc	p.F111C	DMAP1_uc010okq.1_Missense_Mutation_p.F137C|DMAP1_uc010okr.1_Missense_Mutation_p.F111C|DMAP1_uc010oks.1_Missense_Mutation_p.F111C|DMAP1_uc010okt.1_Missense_Mutation_p.F111C|DMAP1_uc001clr.1_Missense_Mutation_p.F111C|DMAP1_uc001cls.1_Missense_Mutation_p.F111C|DMAP1_uc010oku.1_Missense_Mutation_p.F111C	NM_001034024	NP_061973	Q9NPF5	DMAP1_HUMAN	Homo sapiens DNA methyltransferase 1 associated protein 1 (DMAP1), transcript variant 3, mRNA.	111					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					GGAGCAATGTTCTTCCACTGG	0.572000													6	63					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48591894	48591894	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr18:48591894T>A	uc010xdp.2	+	8	1595	c.1057T>A	c.(1057-1059)Tac>Aac	p.Y353N	SMAD4_uc002lfb.4_Missense_Mutation_p.Y198N	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	Homo sapiens SMAD family member 4 (SMAD4), mRNA.	353	MH2.				BMP signaling pathway|SMAD protein complex assembly|SMAD protein signal transduction|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of SMAD protein import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|R-SMAD binding|protein homodimerization activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.Y353C(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGTTGATGGATACGTGGACCC	0.438000													25	42					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553994	140553994	+	Silent	SNP	G	G	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr5:140553994G>T	uc003lit.3	+	0	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	526	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A526A(2)|p.A526S(1)|p.Q525Q(1)|p.A526E(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706000													3	83					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212288967	212288967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr2:212288967G>A	uc002veg.1	-	22	2877	c.2779C>T	c.(2779-2781)Cga>Tga	p.R927*	ERBB4_uc002veh.1_Nonsense_Mutation_p.R927*|ERBB4_uc010zji.1_Nonsense_Mutation_p.R917*|ERBB4_uc010zjj.1_Nonsense_Mutation_p.R917*	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	927	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GGGATTTCTCGCGTTGGAATT	0.388000										TSP Lung(8;0.080)			16	44					0	0	1	0	0
RPS11	6205	broad.mit.edu	37	19	50002830	50002830	+	Missense_Mutation	SNP	C	C	A	rs11549537		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr19:50002830C>A	uc002pob.1	+	4	495	c.415C>A	c.(415-417)Cgc>Agc	p.R139S		NM_001015	NP_001006	P62280	RS11_HUMAN	Homo sapiens ribosomal protein S11 (RPS11), mRNA.	139					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		CAAGACAGTGCGCTTCAACGT	0.597000													3	66					0	0	1	0	0
NECAP1	25977	broad.mit.edu	37	12	8242592	8242592	+	Silent	SNP	A	A	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr12:8242592A>G	uc001qtx.2	+	1	234	c.156A>G	c.(154-156)aaA>aaG	p.K52K	NECAP1_uc001qty.2_5'UTR	NM_015509	NP_056324	Q8NC96	NECP1_HUMAN	Homo sapiens NECAP endocytosis associated 1 (NECAP1), transcript variant 1, mRNA.	52					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		TCACTTCAAAAGGGAAGACTG	0.438000													3	124					0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80626371	80626371	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr6:80626371A>T	uc003pja.4	-	5	1218	c.899T>A	c.(898-900)aTa>aAa	p.I300K	ELOVL4_uc011dyt.2_Non-coding_Transcript	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA.	300					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	TCCATTTTCTATCATGAGTTG	0.358000													18	39					0	0	1	0	0
P2RY4	5030	broad.mit.edu	37	X	69479042	69479042	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chrX:69479042G>A	uc004dxz.1	-	0	613	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C		NM_002565	NP_002556	P51582	P2RY4_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 4 (P2RY4), mRNA.	145					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CGGCCCCAGCGTAGTGCCCGA	0.597000													3	19					0	0	1	0	0
HSPA4	3308	broad.mit.edu	37	5	132426987	132426987	+	Missense_Mutation	SNP	G	G	A	rs141758444		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr5:132426987G>A	uc003kyj.3	+	11	1762	c.1481G>A	c.(1480-1482)aGt>aAt	p.S494N		NM_002154	NP_002145	P34932	HSP74_HUMAN	Homo sapiens heat shock 70kDa protein 4 (HSPA4), mRNA.	494					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTGTGTCCAGTGCATCTTTA	0.423000													17	39					0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40481653	40481653	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr17:40481653A>C	uc002hzl.1	-	12	1392	c.1152T>G	c.(1150-1152)ttT>ttG	p.F384L	STAT3_uc002hzk.1_Missense_Mutation_p.F384L|STAT3_uc002hzm.1_Missense_Mutation_p.F384L|STAT3_uc010wgh.1_Missense_Mutation_p.F286L|STAT3_uc002hzn.1_Missense_Mutation_p.F384L	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	384			F -> L (in AD-HIES).|F -> S (in AD-HIES).		JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CCAGAATGTTAAATTTCCGGG	0.458000									Hyperimmunoglobulin E Recurrent Infection Syndrome				3	88					0	0	1	0	0
WASH7P	653635	broad.mit.edu	37	1	14976	14976	+	RNA	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr1:14976G>A	uc009vis.3	-	2		c.369C>T			WASH7P_uc009vit.3_Non-coding_Transcript|WASH7P_uc009viu.3_Non-coding_Transcript|WASH7P_uc001aae.4_Non-coding_Transcript|WASH7P_uc001aah.4_Non-coding_Transcript|WASH7P_uc009vir.3_Non-coding_Transcript|WASH7P_uc009viq.3_Intron|WASH7P_uc001aac.4_Non-coding_Transcript|WASH7P_uc009viv.2_Non-coding_Transcript|WASH7P_uc009viw.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 7 pseudogene (WASH7P), non-coding RNA.																		CTACCCTTGCGCCTCATGACC	0.582000													3	13					0	0	1	0	0
CTAG2	30848	broad.mit.edu	37	X	153881613	153881613	+	Silent	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chrX:153881613G>A	uc004fmi.2	-	0	241	c.177C>T	c.(175-177)ggC>ggT	p.G59G	CTAG2_uc004fmh.2_Silent_p.G59G	NM_020994	NP_066274	O75638	CTAG2_HUMAN	Homo sapiens cancer/testis antigen 2 (CTAG2), transcript variant 2, mRNA.	59	Gly-rich.					centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCGCGGGGCGCCTCCTCTCG	0.756000													13	2					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24483975	24483975	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr2:24483975C>A	uc002rfe.2	-	22	2940	c.2682_splice	c.e22+1	p.Q894_splice	ITSN2_uc002rff.2_Splice_Site_p.Q867_splice|ITSN2_uc002rfg.3_Splice_Site_p.Q894_splice	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	894					endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACAACATACCTGTCCATGAA	0.343000													3	59					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67909965	67909965	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr16:67909965G>A	uc002eur.3	+	1	439	c.200G>A	c.(199-201)cGg>cAg	p.R67Q	EDC4_uc010cer.3_5'UTR|EDC4_uc010vkg.1_5'UTR|EDC4_uc002eus.3_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	67					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		ACTGGTCTTCGGACCATGCCA	0.532000													33	113					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30961160	30961160	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr2:30961160C>T	uc021vfn.1	-	16	1627	c.1595_splice	c.e16-1	p.G532_splice	CAPN13_uc002rnm.3_Splice_Site|CAPN13_uc021vfm.1_Splice_Site_p.G528_splice	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	532					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CCTGGAGGTCCTGAGGAGAGA	0.597000													4	42					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140277663	140277663	+	Missense_Mutation	SNP	G	G	A	rs137889465		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr3:140277663G>A	uc003etn.3	+	11	2195	c.2005G>A	c.(2005-2007)Gcc>Acc	p.A669T		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	669					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding	p.A669T(2)|p.A669A(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GAGCACCTTCGCCAAAACCGA	0.532000										HNSCC(16;0.037)			10	30					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546150	11546150	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr12:11546150G>C	uc010shk.1	-	2	897	c.862C>G	c.(862-864)Cca>Gca	p.P288A		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.									p.P288A(1)|p.P267A(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCTCCTTGTGGGGGTGGTCCT	0.617000													4	238					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175105	51175105	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr16:51175105A>G	uc021tif.1	-	1	1059	c.737T>C	c.(736-738)aTa>aCa	p.I246T	SALL1_uc021tid.1_Missense_Mutation_p.I246T|SALL1_uc021tie.1_Missense_Mutation_p.I343T|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	343					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CGCTGCCAATATGTTCATATT	0.532000													5	143					0	0	1	0	0
CHST2	9435	broad.mit.edu	37	3	142840957	142840957	+	Silent	SNP	C	C	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr3:142840957C>G	uc003evm.3	+	1	2238	c.1299C>G	c.(1297-1299)gtC>gtG	p.V433V	CHST2_uc021xex.1_Silent_p.V433V	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.	433					N-acetylglucosamine metabolic process|inflammatory response|multicellular organismal development|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GAGACCCCGTCAAGACACTAC	0.597000													9	24					0	0	1	0	0
MBD6	114785	broad.mit.edu	37	12	57918089	57918089	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr12:57918089G>T	uc001soj.1	+	2	227	c.3G>T	c.(1-3)atG>atT	p.M1I	MBD6_uc001sok.1_5'Flank|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	1						chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TACACACAATGAATGGGGGCA	0.572000													4	80					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25171525	25171525	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr13:25171525G>T	uc001upm.3	+	13		c.1421_splice	c.e13-1		TPTE2P6_uc001upn.3_Splice_Site|TPTE2P6_uc001upo.3_Splice_Site					Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		CTATTCTTAGGCTTTATCTAC	0.353000													7	15					0	0	1	0	0
ANGPTL6	83854	broad.mit.edu	37	19	10203390	10203390	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr19:10203390C>T	uc002mmy.1	-	5	1480	c.1288G>A	c.(1288-1290)Ggt>Agt	p.G430S	C19orf66_uc002mmu.4_3'UTR|C19orf66_uc002mmv.4_3'UTR|C19orf66_uc002mmw.4_3'UTR|ANGPTL6_uc002mmx.2_Missense_Mutation_p.G430S	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	Homo sapiens angiopoietin-like 6 (ANGPTL6), mRNA.	430	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			TGCCACACACCGTTGAGGTTG	0.607000													12	33					0	0	1	0	0
CCDC144B	284047	broad.mit.edu	37	17	18456561	18456561	+	RNA	SNP	G	G	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr17:18456561G>T	uc002gua.4	-	13		c.3961C>A								Homo sapiens coiled-coil domain containing 144B (pseudogene) (CCDC144B), non-coding RNA.											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						AAGTCGGCTTGCGAAGTTTTT	0.348000													3	7					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110131650	110131650	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr8:110131650G>T	uc003ymz.4	+	1	1252	c.1163G>T	c.(1162-1164)tGc>tTc	p.C388F		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	388						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GATGACACCTGCTTGGCTTCT	0.413000													14	60					0	0	1	0	0
GSDMB	55876	broad.mit.edu	37	17	38073351	38073351	+	Silent	SNP	C	C	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr17:38073351C>T	uc010cwj.3	-	1	350	c.219G>A	c.(217-219)ctG>ctA	p.L73L	GSDMB_uc010cwl.3_Non-coding_Transcript|GSDMB_uc010cwm.3_Non-coding_Transcript|GSDMB_uc010cwk.3_Non-coding_Transcript|GSDMB_uc002htg.3_Silent_p.L73L|GSDMB_uc002hth.3_Silent_p.L73L|GSDMB_uc010wem.2_Silent_p.L73L	NM_001165958	NP_001159430	Q8TAX9	GSDMB_HUMAN	Homo sapiens gasdermin B (GSDMB), transcript variant 3, mRNA.	73						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						GCCCAGAATCCAGTTCATCTA	0.507000													7	91					0	0	1	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285040	44285040	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr10:44285040C>A	uc010qfe.1	-	0	826	c.796G>T	c.(796-798)Gat>Tat	p.D266Y						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		tccattatatccacatcacct	0.507000													24	36					0	0	1	0	0
FAH	2184	broad.mit.edu	37	15	80472567	80472567	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr15:80472567G>A	uc002bfm.2	+	12	1226	c.1062_splice	c.e12+1	p.P354_splice	FAH_uc002bfn.2_Splice_Site_p.P284_splice|FAH_uc010bln.1_Non-coding_Transcript|FAH_uc010blo.1_Intron	NM_000137	NP_000128	P16930	FAAA_HUMAN	Homo sapiens fumarylacetoacetate hydrolase (fumarylacetoacetase) (FAH), mRNA.	354					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCAGCGGGCCGGTGAGTATCT	0.637000									Tyrosinemia, type 1				3	39					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119027721	119027721	+	Silent	SNP	T	T	C			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr11:119027721T>C	uc001pvs.3	+	8	1401	c.1065T>C	c.(1063-1065)ccT>ccC	p.P355P	ABCG4_uc009zar.3_Silent_p.P355P	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	355					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTCCTTGTCCTCCGGTGAGTA	0.607000													3	107					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237813234	237813234	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr1:237813234G>A	uc001hyl.1	+	49	7690	c.7570G>A	c.(7570-7572)Gtc>Atc	p.V2524I		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2524	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGCACAGCCGTCTTGCCATT	0.463000													48	105					0	0	1	0	0
ZBTB39	9880	broad.mit.edu	37	12	57397205	57397205	+	Silent	SNP	C	C	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr12:57397205C>T	uc001sml.2	-	1	1650	c.1497G>A	c.(1495-1497)acG>acA	p.T499T	ZBTB39_uc021qzg.1_Silent_p.T499T	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GATGGGACAGCGTGTGCCACA	0.557000													3	14					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8874814	8874814	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr2:8874814A>C	uc002qzc.2	-	27	3969	c.3787T>G	c.(3787-3789)Ttt>Gtt	p.F1263V	KIDINS220_uc010yiv.1_Missense_Mutation_p.F972V|KIDINS220_uc002qzd.2_Missense_Mutation_p.F1164V|KIDINS220_uc010yiw.1_Missense_Mutation_p.F1207V|KIDINS220_uc002qzb.2_Missense_Mutation_p.F117V	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1263					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAGTCTCCAAAATTCATATTC	0.299000													19	26					0	0	1	0	0
SLC30A6	55676	broad.mit.edu	37	2	32429723	32429723	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr2:32429723T>C	uc002rof.2	+	11	910	c.850T>C	c.(850-852)Tat>Cat	p.Y284H	SLC30A6_uc002roe.2_Missense_Mutation_p.Y244H|SLC30A6_uc010ymw.2_Missense_Mutation_p.Y215H|SLC30A6_uc010ezr.2_Missense_Mutation_p.Y244H|SLC30A6_uc002rog.2_Missense_Mutation_p.Y47H|SLC30A6_uc010ezs.2_Missense_Mutation_p.Y170H|SLC30A6_uc002roh.2_Missense_Mutation_p.Y47H	NM_001193513	NP_001180442	Q6NXT4	ZNT6_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 6 (SLC30A6), transcript variant 1, mRNA.	244						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGGCACTATGTATCCCATGAG	0.358000													21	52					0	0	1	0	0
IGH	0	broad.mit.edu	37	16	31973475	31973475	+	RNA	SNP	G	G	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr16:31973475G>T	uc002ect.3	+	0		c.67G>T								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H186.																		ACTCTCCTGTGCAGCCTCTGG	0.587000													4	144					0	0	1	0	0
TMEM26	219623	broad.mit.edu	37	10	63170373	63170373	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr10:63170373G>A	uc001jlo.2	-	5	1183	c.814C>T	c.(814-816)Cgt>Tgt	p.R272C	TMEM26_uc001jlp.1_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	272						integral to membrane		p.V271M(1)		kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AGTATGAGACGCACGACAAGG	0.502000													4	46					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126748890	126748890	+	Silent	SNP	C	C	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr3:126748890C>A	uc003ejg.3	+	26	5044	c.5044C>A	c.(5044-5046)Cgg>Agg	p.R1682R	PLXNA1_uc003ejh.3_Silent_p.R327R	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	1682					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTACTTGACACGGCTACTGGC	0.637000													3	95					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27506671	27506671	+	Silent	SNP	C	C	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr16:27506671C>T	uc002dov.2	-	14	2533	c.2493G>A	c.(2491-2493)acG>acA	p.T831T	GTF3C1_uc002dou.3_Silent_p.T831T	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	831						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCTGCTTTATCGTTCTCCGTT	0.602000													5	45					0	0	1	0	0
RSC1A1	6248	broad.mit.edu	37	1	15987657	15987657	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr1:15987657A>G	uc010obn.2	+	0	1294	c.1294A>G	c.(1294-1296)Act>Gct	p.T432A		NM_006511	NP_006502	Q92681	RSCA1_HUMAN	Homo sapiens regulatory solute carrier protein, family 1, member 1 (RSC1A1), mRNA.	432					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	Golgi apparatus|cell junction|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTAACAGGTACTTCATCTGA	0.438000													13	25					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279830	46279830	+	Silent	SNP	G	G	A	rs147918555		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr20:46279830G>A	uc002xtk.3	+	19	4017	c.3756G>A	c.(3754-3756)caG>caA	p.Q1252Q	NCOA3_uc002xtl.3_Silent_p.Q1248Q|NCOA3_uc002xtn.3_Silent_p.Q1251Q|NCOA3_uc010ght.2_Silent_p.Q1243Q|NCOA3_uc002xtm.3_Silent_p.Q1247Q|NCOA3_uc010zyc.2_Silent_p.Q1047Q	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	1252	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1252Q(6)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.547000													3	21					0	0	1	0	0
NT5M	56953	broad.mit.edu	37	17	17250219	17250219	+	Silent	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr17:17250219G>A	uc002grf.3	+	4	830	c.645G>A	c.(643-645)gcG>gcA	p.A215A	NT5M_uc002grg.3_Silent_p.A221A	NM_020201	NP_064586	Q9NPB1	NT5M_HUMAN	Homo sapiens 5',3'-nucleotidase, mitochondrial (NT5M), nuclear gene encoding mitochondrial protein, mRNA.	215					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						ACTCGTGGGCGGACGACTGGA	0.692000													3	62					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr17:7574018G>A	uc002gim.2	-	9	1203	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Intron|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.R205C|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.R337C|DL476313_uc021tpe.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R337C(34)|p.R337L(10)|p.0?(8)|p.E336*(5)|p.R337fs*8(3)|p.R337H(3)|p.R337G(2)|p.?(1)|p.E336fs*12(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATCTCGAAGCGCTCACGCCCA	0.522000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			6	30					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981685	7981685	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr11:7981685G>A	uc001mfv.1	-	1	1491	c.1474C>T	c.(1474-1476)Cgc>Tgc	p.R492C		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	492							ATP binding	p.R492C(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTTCTCTGCGGGACTCCTTC	0.498000													31	60					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30003095	30003095	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr15:30003095G>A	uc001zcr.3	-	23	4787	c.4312C>T	c.(4312-4314)Cca>Tca	p.P1438S	TJP1_uc010azl.3_Missense_Mutation_p.P1426S|TJP1_uc001zcq.3_Missense_Mutation_p.P1362S|TJP1_uc001zcs.3_Missense_Mutation_p.P1358S	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	1438					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGCTGAGATGGCTGGGCATAC	0.517000													4	230					0	0	1	0	0
GBE1	2632	broad.mit.edu	37	3	81627235	81627235	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr3:81627235delC	uc021xav.1	-	11	1741	c.1459delG	c.(1459-1461)gatfs	p.D487fs	GBE1_uc021xax.1_Frame_Shift_Del_p.D446fs	NM_000158	NP_000149	Q04446	GLGB_HUMAN	Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (GBE1), mRNA.	487					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		AGCGACTTATCCCCAACCAAT	0.363									Glycogen Storage Disease, type IV				2	4	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	GGC	GGC	rs67907220		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr4:147560457_147560458insGGC	uc003ikv.3	+	0	413_414	c.165_166insGGC	c.(163-168)insGGC	p.68_69insG		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	68	Poly-Gly.				MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762													4	5	---	---	---	---					
EFR3A	23167	broad.mit.edu	37	8	132999828	132999828	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr8:132999828delA	uc003yte.3	+	17	2148	c.1944delA	c.(1942-1944)ccafs	p.P648fs		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	648						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GCAGGCTTCCAAAATCTTTAG	0.358													2	4	---	---	---	---					
CREB3	10488	broad.mit.edu	37	9	35736505	35736506	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr9:35736505_35736506delTG	uc003zxv.3	+	8	1351_1352	c.898_899delTG	c.(898-900)tgtfs	p.C300fs	CREB3_uc010mla.3_Frame_Shift_Del_p.C219fs	NM_006368	NP_006359	O43889	CREB3_HUMAN	Homo sapiens cAMP responsive element binding protein 3 (CREB3), mRNA.	324					chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	Golgi apparatus|cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nucleus	CCR1 chemokine receptor binding|DNA binding|cAMP response element binding protein binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CGGCTCAGACTGTGTACTCCAG	0.614											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	129	---	---	---	---					
KRT2	3849	broad.mit.edu	37	12	53045603	53045604	+	In_Frame_Ins	INS	-	AAGCCGCTGCCACCTCCA	AAGCCGCTGCCACCTCCA	rs35124031		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr12:53045603_53045604insAAGCCGCTGCCACCTCCA	uc001sat.3	-	0	356_357	c.323_324insTGGAGGTGGCAGCGGCTT	c.(322-324)ttc>ttTGGAGGTGGCAGCGGCTTc	p.108_108F>FGGGSGF		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	108	Head.			F -> FGGGSGF (in Ref. 1; AAC83410 and 2; AAB81946).	keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		caccaccactgaagccgctgcc	0.629													2	4	---	---	---	---					
PIAS4	51588	broad.mit.edu	37	19	4037775	4037777	+	In_Frame_Del	DEL	GAG	-	-			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr19:4037775_4037777delGAG	uc002lzg.3	+	10	1445_1447	c.1435_1437delGAG	c.(1435-1437)gagdel	p.E487del		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	Homo sapiens protein inhibitor of activated STAT, 4 (PIAS4), mRNA.	487	Asp/Glu-rich (acidic).				Wnt receptor signaling pathway|positive regulation of protein sumoylation|transcription, DNA-dependent	PML body|cytoplasm	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCggaggatgaggaggaggagg	0.700													4	4	---	---	---	---					
HDGFRP2	84717	broad.mit.edu	37	19	4493799	4493801	+	In_Frame_Del	DEL	TCC	-	-			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr19:4493799_4493801delTCC	uc002mao.3	+	6	871_873	c.778_780delTCC	c.(778-780)tccdel	p.S264del	HDGFRP2_uc002map.3_In_Frame_Del_p.S264del|HDGFRP2_uc010dtz.1_Non-coding_Transcript	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA.	264	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										ctcctcctcttcctcctcctcct	0.675													3	6	---	---	---	---					
TTLL12	23170	broad.mit.edu	37	22	43578990	43578991	+	Frame_Shift_Ins	INS	-	G	G	rs34872708		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr22:43578990_43578991insG	uc003bdq.3	-	1	404_405	c.342_343insC	c.(340-345)cccaacfs	p.P114fs		NM_015140	NP_055955	Q14166	TTL12_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 12 (TTLL12), mRNA.	114					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TCCTACCTGTTGGGGTGGGCTG	0.639													18	32	---	---	---	---					
