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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CPEB4	80315	broad.mit.edu	37	5	173370039	173370039	+	Nonsense_Mutation	SNP	T	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr5:173370039T>G	uc003mcs.4	+	3	2675	c.1269T>G	c.(1267-1269)taT>taG	p.Y423*	CPEB4_uc010jju.2_Intron|CPEB4_uc010jjv.3_Nonsense_Mutation_p.Y406*|CPEB4_uc011dfg.2_Intron|CPEB4_uc003mcu.4_Intron|CPEB4_uc021yhy.1_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	423							RNA binding|nucleotide binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAAGGACATATGGGCGAAGGA	0.348000														228			35		0	0	0.027894	0	0
NGLY1	55768	broad.mit.edu	37	3	25773885	25773885	+	Silent	SNP	A	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr3:25773885A>T	uc003cdl.3	-	8	1458	c.1350T>A	c.(1348-1350)ccT>ccA	p.P450P	NGLY1_uc010hfg.3_Silent_p.P432P|NGLY1_uc003cdm.3_Silent_p.P450P|NGLY1_uc011awo.2_Silent_p.P408P|NGLY1_uc003cdk.3_Non-coding_Transcript	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	Homo sapiens N-glycanase 1 (NGLY1), transcript variant 1, mRNA.	450					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CTCCAGGTTTAGGGGTTTTGG	0.418000														70			40		0	0	0.011902	0	0
SLC22A10	387775	broad.mit.edu	37	11	63064875	63064875	+	Missense_Mutation	SNP	C	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr11:63064875C>T	uc009yor.3	+	2	815	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	SLC22A10_uc010rmo.1_Non-coding_Transcript|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	203						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGTGTACTACGCTTCTTGGC	0.408000														168			29		0	0	0.027356	0	0
MADD	8567	broad.mit.edu	37	11	47345285	47345285	+	Missense_Mutation	SNP	G	C	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr11:47345285G>C	uc001ner.1	+	30	4632	c.4441G>C	c.(4441-4443)Gag>Cag	p.E1481Q	MADD_uc001neq.2_Missense_Mutation_p.E1422Q|MADD_uc001nev.1_Missense_Mutation_p.E1379Q|MADD_uc001nes.1_Missense_Mutation_p.E1399Q|MADD_uc001net.1_Missense_Mutation_p.E1442Q|MADD_uc009yln.1_Missense_Mutation_p.E1375Q|MADD_uc001neu.1_Missense_Mutation_p.E1379Q|MADD_uc001nez.2_Missense_Mutation_p.E1378Q|MADD_uc001new.2_Missense_Mutation_p.E1421Q|MADD_uc001nex.2_Missense_Mutation_p.E1481Q|MADD_uc009ylo.3_Missense_Mutation_p.E395Q	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	1481					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CTGGTGGTACGAGAAGCTCAT	0.498000														65			16		0	0	0.004990	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778274	31778274	+	Silent	SNP	G	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr6:31778274G>T	uc003nxh.3	-	1	1659	c.1476C>A	c.(1474-1476)gcC>gcA	p.A492A	HSPA1L_uc010jte.3_Silent_p.A492A|HSPA1L_uc021yuz.1_Silent_p.A492A	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	492					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TCTTGTCCGTGGCTGTGACAT	0.542000														149			34		5.09552e-08	5.66169e-08	0.010818	1	0
MYO5B	4645	broad.mit.edu	37	18	47375980	47375980	+	Missense_Mutation	SNP	T	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr18:47375980T>A	uc002leb.2	-	31	4560	c.4272A>T	c.(4270-4272)aaA>aaT	p.K1424N	MYO5B_uc002ldz.3_5'UTR|MYO5B_uc002lea.2_Missense_Mutation_p.K539N	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1424					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCAGTTGCTTTTTGAGCTTCC	0.483000														356			55		0	0	0.014410	0	0
SCD5	79966	broad.mit.edu	37	4	83719607	83719607	+	Missense_Mutation	SNP	C	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr4:83719607C>G	uc003hna.2	-	0	404	c.84G>C	c.(82-84)gaG>gaC	p.E28D	SCD5_uc003hnb.4_Missense_Mutation_p.E28D|SCD5_uc003hnc.3_Missense_Mutation_p.E28D	NM_001037582	NP_001032671	Q86SK9	SCD5_HUMAN	Homo sapiens stearoyl-CoA desaturase 5 (SCD5), transcript variant 1, mRNA.	28					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	p.E28D(3)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CGCCGCCGCCCTCAGAGCTTT	0.692000														22			5		0	0	0.014758	0	0
RASSF8	11228	broad.mit.edu	37	12	26217472	26217472	+	Missense_Mutation	SNP	A	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr12:26217472A>T	uc001rgx.3	+	2	371	c.145A>T	c.(145-147)Act>Tct	p.T49S	RASSF8_uc001rgy.3_Missense_Mutation_p.T49S|RASSF8_uc001rgz.3_Missense_Mutation_p.T49S|RASSF8_uc009zjd.2_Missense_Mutation_p.T49S|RASSF8_uc009zje.2_Missense_Mutation_p.T49S	NM_001164748	NP_001158220	Q8NHQ8	RASF8_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 (RASSF8), transcript variant 3, mRNA.	49	Ras-associating.				signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					ATGGAGAGATACTGAAAGACA	0.388000														116			27		0	0	0.024334	0	0
OR5D14	219436	broad.mit.edu	37	11	55563326	55563326	+	Missense_Mutation	SNP	T	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr11:55563326T>A	uc010rim.2	+	0	295	c.295T>A	c.(295-297)Tgc>Agc	p.C99S		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CTACTTTAGCTGCATGATGCA	0.458000														66			7		0	0	0.001984	0	0
ZNF385B	151126	broad.mit.edu	37	2	180311412	180311412	+	Silent	SNP	T	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr2:180311412T>G	uc002unn.4	-	6	1360	c.756A>C	c.(754-756)acA>acC	p.T252T	ZNF385B_uc002unj.3_Silent_p.T150T|ZNF385B_uc002unl.3_Silent_p.T149T|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Silent_p.T176T	NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	252						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GTGGCAGGGGTGTTGTGCCAG	0.458000														165			7		0	0	0.024245	0	0
ZNF254	9534	broad.mit.edu	37	19	24309780	24309780	+	Silent	SNP	A	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr19:24309780A>G	uc002nru.3	+	3	1112	c.978A>G	c.(976-978)gaA>gaG	p.E326E	ZNF254_uc010xrk.2_Silent_p.E241E	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	326					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AGTGTGAAGAATGTGGCAAAG	0.388000														69			12		0	0	0.010729	0	0
OR4N5	390437	broad.mit.edu	37	14	20612708	20612708	+	Missense_Mutation	SNP	T	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr14:20612708T>G	uc010tla.2	+	0	814	c.814T>G	c.(814-816)Tct>Gct	p.S272A		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CAAGGTAGTTTCTCTTTTCCA	0.418000														316			72		0	0	0.014410	0	0
NBPF1	55672	broad.mit.edu	37	1	16907371	16907371	+	Missense_Mutation	SNP	C	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr1:16907371C>T	uc009vos.1	-	15	2348	c.1460G>A	c.(1459-1461)gGc>gAc	p.G487D	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Missense_Mutation_p.G216D	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	487	NBPF 2.			G -> S (in Ref. 2; BAB21784).		cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GTCACAAGGGCCGTGGCTATT	0.498000														573			18		0	0	0.009535	0	0
XPO6	23214	broad.mit.edu	37	16	28157419	28157419	+	Missense_Mutation	SNP	T	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr16:28157419T>A	uc002dpa.1	-	8	1831	c.1330A>T	c.(1330-1332)Aac>Tac	p.N444Y	XPO6_uc002dpb.1_Missense_Mutation_p.N430Y|XPO6_uc010vcp.1_Missense_Mutation_p.N444Y	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	444					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GTTTACCTGTTGAGAACTGCT	0.398000														177			69		0	0	0.014410	0	0
COL6A3	1293	broad.mit.edu	37	2	238234213	238234213	+	Silent	SNP	A	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr2:238234213A>T	uc002vwl.2	-	42	9768	c.9483T>A	c.(9481-9483)gtT>gtA	p.V3161V	COL6A3_uc002vwo.2_Silent_p.V2955V|COL6A3_uc010znj.1_Silent_p.V2554V|COL6A3_uc002vwj.2_Silent_p.V542V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	3161	BPTI/Kunitz inhibitor.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.K3160N(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAGGAGCGCAAACCTTTTCAC	0.383000														152			45		0	0	0.014410	0	0
SCAF11	9169	broad.mit.edu	37	12	46318586	46318586	+	Silent	SNP	T	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr12:46318586T>A	uc001rox.3	-	11	4118	c.3831A>T	c.(3829-3831)ccA>ccT	p.P1277P	SCAF11_uc001row.3_Silent_p.P962P	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	1277	Pro-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GTGGTGGTGGTGGTAGTCCCT	0.493000														62			15		0	0	0.004990	0	0
UBA2	10054	broad.mit.edu	37	19	34924279	34924279	+	Missense_Mutation	SNP	G	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr19:34924279G>A	uc002nvk.3	+	3	390	c.320G>A	c.(319-321)cGa>cAa	p.R107Q	UBA2_uc010xrx.1_Intron|UBA2_uc002nvl.3_Missense_Mutation_p.R11Q	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 2 (UBA2), mRNA.	107					protein sumoylation	nucleus	ATP binding|SUMO activating enzyme activity|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity	p.R107*(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GAATTTTTCCGACAGTTTATA	0.308000														131			29		0	0	0.010818	0	0
MALAT1	378938	broad.mit.edu	37	11	65266413	65266413	+	RNA	SNP	G	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr11:65266413G>T	uc010roh.2	+	0		c.1181G>T								Homo sapiens metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) (MALAT1), non-coding RNA.																		TTTAACCGAAGAACTACTTTT	0.413000														87			17		6.49762e-13	7.32814e-13	0.006122	1	0
PRICKLE1	144165	broad.mit.edu	37	12	42858293	42858293	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr12:42858293G>A	uc010skv.2	-	6	1830	c.1543C>T	c.(1543-1545)Cag>Tag	p.Q515*	PRICKLE1_uc001rnl.3_Nonsense_Mutation_p.Q515*|PRICKLE1_uc010skw.2_Nonsense_Mutation_p.Q515*|PRICKLE1_uc001rnm.3_Nonsense_Mutation_p.Q515*	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	515					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TCATACCACTGTGTTTCATCA	0.488000														118			27		0	0	0.021523	0	0
IQUB	154865	broad.mit.edu	37	7	123136764	123136764	+	Missense_Mutation	SNP	T	C	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr7:123136764T>C	uc003vkn.3	-	6	1797	c.1220A>G	c.(1219-1221)tAt>tGt	p.Y407C	IQUB_uc003vko.3_Missense_Mutation_p.Y407C|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Missense_Mutation_p.Y407C	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	407										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TAATGCATTATAAAGAAATTC	0.308000														51			14		0	0	0.028581	0	0
GPR22	2845	broad.mit.edu	37	7	107115465	107115465	+	Silent	SNP	T	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr7:107115465T>A	uc003vef.3	+	2	2306	c.960T>A	c.(958-960)tcT>tcA	p.S320S	COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron|GPR22_uc022ajv.1_Silent_p.S320S	NM_005295	NP_005286	Q99680	GPR22_HUMAN	Homo sapiens G protein-coupled receptor 22 (GPR22), mRNA.	320						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						TGATTATTTCTACATTTCTTC	0.373000														88			19		0	0	0.008871	0	0
INPPL1	3636	broad.mit.edu	37	11	71948376	71948376	+	Missense_Mutation	SNP	C	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr11:71948376C>T	uc001osf.3	+	25	3235	c.3088C>T	c.(3088-3090)Cgg>Tgg	p.R1030W	INPPL1_uc001osg.3_Missense_Mutation_p.R788W	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	1030	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGGGCACCACCGGCACCCTCG	0.642000														87			19		0	0	0.007413	0	0
CCDC110	256309	broad.mit.edu	37	4	186380443	186380443	+	Missense_Mutation	SNP	T	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr4:186380443T>A	uc003ixu.4	-	5	1374	c.1298A>T	c.(1297-1299)aAt>aTt	p.N433I	CCDC110_uc003ixv.4_Missense_Mutation_p.N396I|CCDC110_uc011ckt.1_Missense_Mutation_p.N433I	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	433						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTTAGGTAATTCTGTAAGTA	0.318000														193			46		0	0	0.014410	0	0
MCHR1	2847	broad.mit.edu	37	22	41076973	41076973	+	Missense_Mutation	SNP	A	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr22:41076973A>T	uc003ayz.3	+	1	578	c.310A>T	c.(310-312)Agc>Tgc	p.S104C	MCHR1_uc003aza.3_5'UTR	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	Homo sapiens melanin-concentrating hormone receptor 1 (MCHR1), mRNA.	104					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						TCGCACGGGGAGCATCTCCTA	0.567000														63			12		0	0	0.010729	0	0
COL18A1	80781	broad.mit.edu	37	21	46902710	46902710	+	Splice_Site	SNP	G	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr21:46902710G>A	uc002zhi.3	+	14	2236	c.2215_splice	c.e14-1	p.G739_splice	COL18A1_uc002zhg.3_Splice_Site_p.G559_splice	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	974	Nonhelical region 1 (NC1).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCCGTACAGGGTGAAGCAGGC	0.592000														67			13		0	0	0.020292	0	0
ARID4B	51742	broad.mit.edu	37	1	235386544	235386544	+	Silent	SNP	T	C	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr1:235386544T>C	uc021pks.1	-	12	1379	c.1002A>G	c.(1000-1002)ggA>ggG	p.G334G	ARID4B_uc001hwq.3_Silent_p.G334G|ARID4B_uc001hwr.3_Silent_p.G334G|ARID4B_uc001hws.4_Silent_p.G334G|ARID4B_uc001hwt.4_Silent_p.G15G	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	334	ARID.|Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			AATTTCGATATCCAAGTACAG	0.299000														30			5		0	0	0.014758	0	0
SLC39A7	7922	broad.mit.edu	37	6	33169242	33169242	+	Missense_Mutation	SNP	G	C	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr6:33169242G>C	uc003odf.3	+	1	337	c.220G>C	c.(220-222)Gga>Cga	p.G74R	RXRB_uc003odb.3_5'Flank|RXRB_uc003odc.3_5'Flank|RXRB_uc011dqr.2_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc003ode.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.3_Missense_Mutation_p.G74R|SLC39A7_uc011dqv.2_Intron	NM_001077516	NP_008910	Q92504	S39A7_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 7 (SLC39A7), transcript variant 2, mRNA.	74	His-rich.					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CATCTGGCATGGACATACCCA	0.552000														60			19		0	0	0.008871	0	0
NFKB2	4791	broad.mit.edu	37	10	104156717	104156717	+	Silent	SNP	C	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr10:104156717C>T	uc001kvb.3	+	5	565	c.300C>T	c.(298-300)gaC>gaT	p.D100D	NFKB2_uc001kva.3_Silent_p.D100D|NFKB2_uc010qqk.1_Silent_p.D100D|NFKB2_uc001kvd.3_Silent_p.D100D|NFKB2_uc009xxc.3_Silent_p.D100D	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA.	100	RHD.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		CACACAGTGACCCACCTCGTG	0.597000			T	IGH@	B-NHL									43			7		0	0	0.001984	0	0
ARSD	414	broad.mit.edu	37	X	2826885	2826885	+	Splice_Site	SNP	T	C	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chrX:2826885T>C	uc004cqy.3	-	9	1399	c.1299_splice	c.e9-1	p.R433_splice		NM_001669	NP_001660	P51689	ARSD_HUMAN	Homo sapiens arylsulfatase D (ARSD), mRNA.	433						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCAATCACCCTGATTTCATGA	0.557000														15			6		0	0	0.001984	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156725753	156725753	+	Missense_Mutation	SNP	A	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr4:156725753A>G	uc003ipc.3	+	11	1730	c.1563A>G	c.(1561-1563)atA>atG	p.I521M	GUCY1B3_uc011cio.2_Missense_Mutation_p.I543M|GUCY1B3_uc011cip.2_Missense_Mutation_p.I501M|GUCY1B3_uc003ipd.3_Missense_Mutation_p.I449M|GUCY1B3_uc010iqf.3_Missense_Mutation_p.I488M|GUCY1B3_uc010iqg.3_Missense_Mutation_p.I492M|GUCY1B3_uc011ciq.2_Missense_Mutation_p.I449M	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	Homo sapiens guanylate cyclase 1, soluble, beta 3 (GUCY1B3), mRNA.	521	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AGATAACAATAGGGATACACA	0.373000														120			16		0	0	0.007413	0	0
MEI1	150365	broad.mit.edu	37	22	42149973	42149973	+	Missense_Mutation	SNP	T	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr22:42149973T>G	uc003baz.1	+	16	1899	c.1874T>G	c.(1873-1875)gTg>gGg	p.V625G	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_5'UTR|MEI1_uc003bbc.1_5'UTR|MEI1_uc010gym.1_5'UTR	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	625							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTAAACCAGGTGTGTTCCAAT	0.458000														71			12		0	0	0.016723	0	0
SRRM2	23524	broad.mit.edu	37	16	2807812	2807812	+	Missense_Mutation	SNP	A	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr16:2807812A>T	uc002crk.3	+	3	930	c.381A>T	c.(379-381)ttA>ttT	p.L127F	SRRM2_uc002crj.1_Missense_Mutation_p.L31F|SRRM2_uc002crl.1_Missense_Mutation_p.L127F|SRRM2_uc010bsu.1_Missense_Mutation_p.L31F	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	127						Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						tggcagaattaaatgagaaga	0.443000														161			31		0	0	0.007291	0	0
NDUFB5	4711	broad.mit.edu	37	3	179334831	179334831	+	Splice_Site	SNP	A	C	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr3:179334831A>C	uc003fkc.3	+	4	371	c.342_splice	c.e4+1	p.K114_splice	NDUFB5_uc021xhu.1_Splice_Site_p.K114_splice|NDUFB5_uc003fke.3_Splice_Site_p.K62_splice|NDUFB5_uc003fkd.3_Splice_Site	NM_002492	NP_002483	O43674	NDUB5_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa (NDUFB5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	114					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	GAATATTATAAGGTTTGTATA	0.343000														40			22		0	0	0.021523	0	0
TPTE	7179	broad.mit.edu	37	21	10916473	10916473	+	Missense_Mutation	SNP	C	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr21:10916473C>A	uc002yip.1	-	19	1541	c.1173G>T	c.(1171-1173)aaG>aaT	p.K391N	TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Missense_Mutation_p.K373N|TPTE_uc002yir.1_Missense_Mutation_p.K353N|TPTE_uc010gkv.1_Missense_Mutation_p.K253N	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	391	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAACATATCTCTTCTGAAAAG	0.338000														140			4		0.00909568	0.00967626	0.009096	1	0
PSME4	23198	broad.mit.edu	37	2	54135515	54135515	+	Missense_Mutation	SNP	T	C	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr2:54135515T>C	uc002rxp.2	-	23	2782	c.2726A>G	c.(2725-2727)cAt>cGt	p.H909R	PSME4_uc010yop.1_Missense_Mutation_p.H795R|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Missense_Mutation_p.H284R|PSME4_uc010fbv.1_Missense_Mutation_p.H53R|PSME4_uc021vho.1_Missense_Mutation_p.H894R	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	909					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTCAAATTCATGCTTGTGAGA	0.338000														34			7		0	0	0.003080	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222316	140222316	+	Silent	SNP	G	C	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr5:140222316G>C	uc003lhs.2	+	0	1410	c.1410G>C	c.(1408-1410)ccG>ccC	p.P470P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.P470P	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	484	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACCCGCCGGGCTGCCACA	0.672000														81			14		0	0	0.024245	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409159	105409159	+	Missense_Mutation	SNP	G	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr14:105409159G>A	uc010axc.1	-	6	12749	c.12629C>T	c.(12628-12630)gCc>gTc	p.A4210V	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.A4110V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4210						nucleus		p.A4210V(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTGAGGCCGGCTCCCTTGGG	0.642000														197			4		0	0	0.009096	0	0
BRAF	673	broad.mit.edu	37	7	140453193	140453193	+	Splice_Site	SNP	T	C	C	rs121913370		TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr7:140453193T>C	uc003vwc.4	-	15	1803	c.1742_splice	c.e15-1	p.N581_splice		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	581	Protein kinase.		N -> D (in CFC syndrome).|N -> S (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.N581S(9)|p.N581I(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	AAGAAATATATCTGAGGTGTA	0.358000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					74			16		0	0	0.028581	0	0
MBD6	114785	broad.mit.edu	37	12	57922959	57922959	+	Missense_Mutation	SNP	C	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr12:57922959C>T	uc001soj.1	+	12	3178	c.2954C>T	c.(2953-2955)cCt>cTt	p.P985L	MBD6_uc001sok.1_Missense_Mutation_p.P853L|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	985						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						GTCCCTCTGCCTCCCCGGGCC	0.562000														54			17		0	0	0.008871	0	0
PDZD2	23037	broad.mit.edu	37	5	31983432	31983432	+	Silent	SNP	C	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr5:31983432C>G	uc003jhl.3	+	2	1036	c.648C>G	c.(646-648)acC>acG	p.T216T	PDZD2_uc003jhm.3_Silent_p.T216T|PDZD2_uc011cnx.1_Silent_p.T42T	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	216					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGAAACGAACCAGAAAGTTTG	0.557000														92			26		0	0	0.021523	0	0
NPEPPS	9520	broad.mit.edu	37	17	45699224	45699224	+	Nonsense_Mutation	SNP	C	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr17:45699224C>T	uc002ilr.4	+	22	2921	c.2698C>T	c.(2698-2700)Cga>Tga	p.R900*	NPEPPS_uc010wkt.2_Nonsense_Mutation_p.R896*|NPEPPS_uc010wku.2_Nonsense_Mutation_p.R864*|NPEPPS_uc010wkv.2_Nonsense_Mutation_p.R454*	NM_006310	NP_006301	P55786	PSA_HUMAN	Homo sapiens aminopeptidase puromycin sensitive (NPEPPS), mRNA.	900					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						CTGGCTAAAGCGAGATGCTGA	0.542000														44			4		0	0	0.009096	0	0
TMEM220	388335	broad.mit.edu	37	17	10626593	10626593	+	Missense_Mutation	SNP	G	C	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr17:10626593G>C	uc002gmx.3	-	4	819	c.341C>G	c.(340-342)tCc>tGc	p.S114C	TMEM220_uc002gmy.3_Missense_Mutation_p.S104C	NM_001004313	NP_001004313	Q6QAJ8	TM220_HUMAN	Homo sapiens transmembrane protein 220 (TMEM220), mRNA.	114						integral to membrane				kidney(1)|large_intestine(1)|lung(1)|prostate(2)	5						TTACTTTGAGGAACTGTGGCA	0.468000														87			15		0	0	0.004990	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8665858	8665858	+	Missense_Mutation	SNP	T	C	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr19:8665858T>C	uc002mkj.1	-	5	1038	c.764A>G	c.(763-765)cAc>cGc	p.H255R	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	255	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CCGGCGCCCGTGATAGGCCAC	0.612000														94			3		0	0	0.004672	0	0
MVP	9961	broad.mit.edu	37	16	29848119	29848119	+	Missense_Mutation	SNP	T	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr16:29848119T>G	uc002dui.3	+	6	901	c.749T>G	c.(748-750)cTg>cGg	p.L250R	BOLA2_uc010bzb.1_Intron|MVP_uc010bzh.2_Non-coding_Transcript|MVP_uc010vdz.2_Non-coding_Transcript|MVP_uc002duj.3_Missense_Mutation_p.L250R|MVP_uc010vea.2_5'UTR	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	250					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GAGGAGTGGCTGGTAACAGTG	0.642000														52			4		0	0	0.021553	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62648934	62648934	+	Missense_Mutation	SNP	C	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr10:62648934C>G	uc001jli.3	-	6	930	c.492G>C	c.(490-492)aaG>aaC	p.K164N	RHOBTB1_uc009xpe.2_Missense_Mutation_p.K102N|RHOBTB1_uc001jlh.3_Missense_Mutation_p.K164N|RHOBTB1_uc001jlj.3_Missense_Mutation_p.K164N|RHOBTB1_uc001jlk.3_Missense_Mutation_p.K164N	NM_001242359	NP_001229288	O94844	RHBT1_HUMAN	Homo sapiens Rho-related BTB domain containing 1 (RHOBTB1), transcript variant 4, mRNA.	164	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TATCCCCTCTCTTTATGGGCC	0.393000														95			10		0	0	0.010729	0	0
AGR2	10551	broad.mit.edu	37	7	16837319	16837319	+	Splice_Site	SNP	C	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr7:16837319C>A	uc003str.3	-	6	518	c.331_splice	c.e6-1	p.Y111_splice		NM_006408	NP_006399	O95994	AGR2_HUMAN	Homo sapiens anterior gradient 2 homolog (Xenopus laevis) (AGR2), mRNA.	111					mucus secretion	endoplasmic reticulum|extracellular region	protein binding			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TTGTTTCATACTAAAATAAAA	0.383000														38			11		1.58986e-06	1.74073e-06	0.008291	1	0
CELSR1	9620	broad.mit.edu	37	22	46790151	46790151	+	Missense_Mutation	SNP	A	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr22:46790151A>T	uc003bhw.1	-	13	5852	c.5852T>A	c.(5851-5853)cTt>cAt	p.L1951H	CELSR1_uc011arc.1_Missense_Mutation_p.L272H	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1951	EGF-like 7; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGGGCACGGAAGGTCGAGTCT	0.567000														37			8		0	0	0.006214	0	0
CCKBR	887	broad.mit.edu	37	11	6291417	6291417	+	Missense_Mutation	SNP	G	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr11:6291417G>A	uc001mcp.3	+	2	758	c.503G>A	c.(502-504)cGc>cAc	p.R168H	CCKBR_uc001mcq.3_Missense_Mutation_p.R96H|CCKBR_uc001mcr.3_Missense_Mutation_p.R168H|CCKBR_uc001mcs.3_Missense_Mutation_p.R168H	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	168					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TGGCAGACGCGCTCCCACGCG	0.647000														32			10		0	0	0.008291	0	0
ANKRD17	26057	broad.mit.edu	37	4	74014608	74014608	+	Missense_Mutation	SNP	T	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr4:74014608T>A	uc003hgp.3	-	7	1606	c.1489A>T	c.(1489-1491)Aat>Tat	p.N497Y	ANKRD17_uc003hgo.3_Missense_Mutation_p.N384Y|ANKRD17_uc003hgq.3_Missense_Mutation_p.N497Y|ANKRD17_uc003hgr.3_Missense_Mutation_p.N497Y|ANKRD17_uc011cbd.1_Missense_Mutation_p.N126Y	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	497					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCTTCATCATTGACCTCTTCC	0.443000														69			12		0	0	0.013537	0	0
USP15	9958	broad.mit.edu	37	12	62795034	62795034	+	Silent	SNP	T	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr12:62795034T>A	uc001src.2	+	20	2817	c.2742T>A	c.(2740-2742)acT>acA	p.T914T	USP15_uc001srb.2_Silent_p.T885T	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	914					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GTGTCTCCACTGCATCTGAAG	0.323000														43			13		0	0	0.028581	0	0
PXN	5829	broad.mit.edu	37	12	120653399	120653399	+	Silent	SNP	G	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr12:120653399G>A	uc001txt.3	-	6	1039	c.897C>T	c.(895-897)ggC>ggT	p.G299G	PXN_uc001txu.3_Silent_p.G63G|PXN_uc001txx.3_Intron|PXN_uc001txv.3_Intron|PXN_uc001txy.3_Intron|PXN_uc001txz.3_Non-coding_Transcript	NM_001080855	NP_001074324	P49023	PAXI_HUMAN	Homo sapiens paxillin (PXN), transcript variant 2, mRNA.	299					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCTCCGCCCGCCGTCCCGAG	0.672000														38			13		0	0	0.020292	0	0
LRRK2	120892	broad.mit.edu	37	12	40681240	40681240	+	Missense_Mutation	SNP	A	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr12:40681240A>T	uc001rmg.4	+	19	2709	c.2588A>T	c.(2587-2589)aAt>aTt	p.N863I	LRRK2_uc001rmh.1_Missense_Mutation_p.N485I	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	863					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGCGATGGAAATTTTTCTGAA	0.398000														75			20		0	0	0.010504	0	0
CASP4	837	broad.mit.edu	37	11	104825523	104825523	+	Missense_Mutation	SNP	C	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr11:104825523C>T	uc001pid.1	-	1	286	c.213G>A	c.(211-213)atG>atA	p.M71I	CASP4_uc001pib.1_Missense_Mutation_p.M15I|CASP4_uc009yxg.1_5'UTR|CASP4_uc010rux.1_Missense_Mutation_p.M71I|CASP4_uc010ruy.1_Missense_Mutation_p.M71I	NM_001225	NP_150649	P49662	CASP4_HUMAN	Homo sapiens caspase 4, apoptosis-related cysteine peptidase (CASP4), transcript variant alpha, mRNA.	71	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TTTGAAGAAGCATTTGTCCTG	0.353000														164			32		0	0	0.012213	0	0
SCN1A	6323	broad.mit.edu	37	2	166915109	166915109	+	Silent	SNP	C	T	T	rs121917959		TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr2:166915109C>T	uc002udo.4	-	3	581	c.354G>A	c.(352-354)agG>agA	p.R118R	SCN1A_uc010fpk.3_Silent_p.R118R|SCN1A_uc021vsb.1_Silent_p.R118R	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	118			R -> S (in SMEI; dbSNP:rs121917959).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TAGCTATTTTCCTAAGAGGAT	0.338000														67			13		0	0	0.013537	0	0
MLH3	27030	broad.mit.edu	37	14	75516130	75516130	+	Nonsense_Mutation	SNP	T	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr14:75516130T>A	uc001xrd.1	-	1	445	c.229A>T	c.(229-231)Aaa>Taa	p.K77*	MLH3_uc001xre.1_Nonsense_Mutation_p.K77*|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	77					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GAGTGGCATTTACTGGTGAAA	0.448000								Mismatch excision repair (MMR)						73			15		0	0	0.024245	0	0
ABCB5	340273	broad.mit.edu	37	7	20778604	20778604	+	Splice_Site	SNP	A	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr7:20778604A>G	uc010kuh.3	+	24	3105	c.2868_splice	c.e24-2	p.I956_splice	ABCB5_uc003suw.4_Splice_Site_p.I511_splice	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	511					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATCTTTTGATAGAGTTTTTAC	0.393000														34			6		0	0	0.001984	0	0
PCBP1	5093	broad.mit.edu	37	2	70314950	70314950	+	Silent	SNP	A	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr2:70314950A>G	uc002sgf.3	+	0	366	c.75A>G	c.(73-75)gtA>gtG	p.V25V	PCBP1-AS1_uc002sga.3_5'Flank|PCBP1-AS1_uc002sgb.1_5'Flank|PCBP1-AS1_uc002sge.1_5'Flank	NM_006196	NP_006187	Q15365	PCBP1_HUMAN	Homo sapiens poly(rC) binding protein 1 (PCBP1), mRNA.	25	KH 1.				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	RNA binding|protein binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						GAAAGGAAGTAGGAAGCATCA	0.567000														102			34		0	0	0.017118	0	0
RBM27	54439	broad.mit.edu	37	5	145641187	145641187	+	Missense_Mutation	SNP	T	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr5:145641187T>G	uc003lnz.4	+	12	2174	c.2008T>G	c.(2008-2010)Ttg>Gtg	p.L670V	RBM27_uc003lny.2_Missense_Mutation_p.L615V	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	670	RRM.				mRNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|zinc ion binding	p.V669A(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATTCGAGTCTTGTGGCATAG	0.478000														163			31		0	0	0.008361	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102323022	102323022	+	Splice_Site	SNP	G	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr14:102323022G>A	uc001yko.3	+	2	235	c.95_splice	c.e2-1	p.D32_splice	PPP2R5C_uc010txr.2_Splice_Site_p.D63_splice|PPP2R5C_uc001ykk.3_Splice_Site_p.D87_splice|PPP2R5C_uc010txt.2_Splice_Site_p.D22_splice|PPP2R5C_uc001ykn.3_Splice_Site_p.D32_splice|PPP2R5C_uc001ykp.3_Splice_Site_p.D32_splice|PPP2R5C_uc010txs.1_Splice_Site_p.D22_splice	NM_002719	NP_002710	Q13362	2A5G_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', gamma (PPP2R5C), transcript variant 1, mRNA.	32					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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTGCTTTTCAGATGTTCCTCC	0.353000														220			49		0	0	0.014410	0	0
AGR2	10551	broad.mit.edu	37	7	16837318	16837318	+	Splice_Site	SNP	A	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr7:16837318A>G	uc003str.3	-	6	518	c.331_splice	c.e6-1	p.Y111_splice		NM_006408	NP_006399	O95994	AGR2_HUMAN	Homo sapiens anterior gradient 2 homolog (Xenopus laevis) (AGR2), mRNA.	111					mucus secretion	endoplasmic reticulum|extracellular region	protein binding			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GTTGTTTCATACTAAAATAAA	0.383000														38			12		0	0	0.010729	0	0
EPOR	2057	broad.mit.edu	37	19	11489162	11489162	+	Missense_Mutation	SNP	A	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr19:11489162A>G	uc002mrj.2	-	7	1160	c.1025T>C	c.(1024-1026)aTg>aCg	p.M342T	EPOR_uc010xly.2_Missense_Mutation_p.M169T|EPOR_uc002mrk.2_Missense_Mutation_p.M169T|EPOR_uc010xlx.2_Non-coding_Transcript	NM_000121	NP_000112	P19235	EPOR_HUMAN	Homo sapiens erythropoietin receptor (EPOR), transcript variant 1, mRNA.	342						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	CACTGCCTGCATCGTCCCCCA	0.627000														45			14		0	0	0.020292	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73021440	73021440	+	Missense_Mutation	SNP	T	C	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr11:73021440T>C	uc001otu.3	+	0	1778	c.1757T>C	c.(1756-1758)aTc>aCc	p.I586T		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	586					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CTGCCCCTCATCGTCCAGGAC	0.647000														67			10		0	0	0.010729	0	0
AGXT2	64902	broad.mit.edu	37	5	35026613	35026613	+	Missense_Mutation	SNP	A	C	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr5:35026613A>C	uc003jjf.3	-	7	1015	c.772T>G	c.(772-774)Tgc>Ggc	p.C258G	AGXT2_uc003jje.1_5'Flank|AGXT2_uc011com.2_Missense_Mutation_p.C258G	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	258					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GCTTGGCAGCAGTCTGCAAAA	0.368000														66			7		0	0	0.001984	0	0
SSFA2	6744	broad.mit.edu	37	2	182765433	182765433	+	Silent	SNP	T	C	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr2:182765433T>C	uc002uoi.3	+	6	836	c.514T>C	c.(514-516)Ttg>Ctg	p.L172L	SSFA2_uc002uoh.3_Silent_p.L172L|SSFA2_uc002uoj.3_Silent_p.L172L|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Silent_p.L19L|SSFA2_uc002uol.3_Silent_p.L19L	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	172						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TGTTTCAGAATTGTTGGAACT	0.299000														72			15		0	0	0.028581	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45926284	45926284	+	Missense_Mutation	SNP	C	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr11:45926284C>T	uc001nbr.3	+	8	2117	c.1792C>T	c.(1792-1794)Cgg>Tgg	p.R598W		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.	598	PID.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	MAP-kinase scaffold activity|kinesin binding|protein kinase inhibitor activity	p.R597C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		CACCACCCGCCGGCTCACCGT	0.612000														77			17		0	0	0.004990	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000														66			8		0	0	0.006214	0	0
QRICH2	84074	broad.mit.edu	37	17	74303551	74303551	+	Missense_Mutation	SNP	C	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr17:74303551C>G	uc002jrd.1	-	0	211	c.31G>C	c.(31-33)Gcc>Ccc	p.A11P	QRICH2_uc010dgw.1_5'UTR	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	11							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CTCACCCTGGCAAAGCTGAGC	0.701000														35			3		0	0	0.009096	0	0
COL4A4	1286	broad.mit.edu	37	2	227872134	227872134	+	Silent	SNP	C	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr2:227872134C>T	uc021vxr.1	-	46	5081	c.4980G>A	c.(4978-4980)caG>caA	p.Q1660Q	COL4A4_uc021vxs.1_Silent_p.Q1657Q	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1660	Collagen IV NC1.			LQ -> FE (in Ref. 5; BAA04214).	axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CAGAGGAAAACTGCAAGTCTG	0.517000														427			76		0	0	0.014410	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562384	145562384	+	Missense_Mutation	SNP	G	C	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr1:145562384G>C	uc001eob.1	+	9	2180	c.2072G>C	c.(2071-2073)cGg>cCg	p.R691P	ANKRD35_uc010oyx.1_Missense_Mutation_p.R534P	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	691										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGAAGCTGCGGAAGCTCCTG	0.632000														36			6		0	0	0.001984	0	0
DNAJB3	414061	broad.mit.edu	37	2	234652372	234652372	+	Missense_Mutation	SNP	A	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr2:234652372A>G	uc002vuz.3	-	0	290	c.191T>C	c.(190-192)aTc>aCc	p.I64T	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	64	J.				protein folding		heat shock protein binding|unfolded protein binding										GCGGTCATAGATATCGCGTTT	0.632000														169			36		0	0	0.015359	0	0
FIG4	9896	broad.mit.edu	37	6	110086287	110086287	+	Missense_Mutation	SNP	A	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr6:110086287A>T	uc003ptt.2	+	13	1721	c.1506A>T	c.(1504-1506)aaA>aaT	p.K502N	FIG4_uc011eau.1_Missense_Mutation_p.K225N	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Homo sapiens FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) (FIG4), mRNA.	502	SAC.				cell death	endosome membrane	protein binding	p.G501E(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TGGTGGGAAAATGTGCTCTGG	0.393000														93			20		0	0	0.012319	0	0
CLEC16A	23274	broad.mit.edu	37	16	11217780	11217780	+	Missense_Mutation	SNP	G	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr16:11217780G>A	uc021tcy.1	+	20	2680	c.2450G>A	c.(2449-2451)cGc>cAc	p.R817H	CLEC16A_uc002dan.4_Missense_Mutation_p.R799H|CLEC16A_uc002dao.3_Missense_Mutation_p.R815H|CLEC16A_uc002dap.3_5'Flank	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	817								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAGGCAAGGCGCATGAAGATG	0.587000														20			3		0	0	0.004672	0	0
KCNT1	57582	broad.mit.edu	37	9	138683918	138683918	+	Missense_Mutation	SNP	G	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr9:138683918G>A	uc011mdq.2	+	30	3693	c.3619G>A	c.(3619-3621)Gtg>Atg	p.V1207M	KCNT1_uc011mdr.2_Missense_Mutation_p.V1055M|KCNT1_uc010nbf.3_Missense_Mutation_p.V1183M	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	1207						membrane	binding|calcium-activated potassium channel activity	p.P1207H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCTGGCTCACGTGGCCAGCAG	0.677000														25			6		0	0	0.001984	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62648933	62648933	+	Nonsense_Mutation	SNP	T	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr10:62648933T>A	uc001jli.3	-	6	931	c.493A>T	c.(493-495)Aga>Tga	p.R165*	RHOBTB1_uc009xpe.2_Nonsense_Mutation_p.R103*|RHOBTB1_uc001jlh.3_Nonsense_Mutation_p.R165*|RHOBTB1_uc001jlj.3_Nonsense_Mutation_p.R165*|RHOBTB1_uc001jlk.3_Nonsense_Mutation_p.R165*	NM_001242359	NP_001229288	O94844	RHBT1_HUMAN	Homo sapiens Rho-related BTB domain containing 1 (RHOBTB1), transcript variant 4, mRNA.	165	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ATATCCCCTCTCTTTATGGGC	0.388000														96			11		0	0	0.013537	0	0
C14orf182	283551	broad.mit.edu	37	14	50472313	50472313	+	Splice_Site	SNP	T	C	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr14:50472313T>C	uc001wxi.1	-	1	1927	c.206_splice	c.e1+1	p.R69_splice		NM_001012706	NP_001012724	A1A4T8	CN182_HUMAN	Homo sapiens chromosome 14 open reading frame 182 (C14orf182), mRNA.	69										large_intestine(2)|urinary_tract(1)	3						CACACGGACCTTGGAGGCACA	0.537000														109			20		0	0	0.010504	0	0
CLDN25	644672	broad.mit.edu	37	11	113651037	113651037	+	Missense_Mutation	SNP	A	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr11:113651037A>G	uc009yyw.1	+	0	520	c.520A>G	c.(520-522)Att>Gtt	p.I174V		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	Homo sapiens claudin 25 (CLDN25), mRNA.	174						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						GGCTGCTGGTATTTTCCTGGC	0.557000														55			11		0	0	0.013537	0	0
SLC38A8	146167	broad.mit.edu	37	16	84063153	84063153	+	Silent	SNP	A	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr16:84063153A>G	uc002fhg.1	-	4	636	c.636T>C	c.(634-636)ccT>ccC	p.P212P		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	212					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCCAGGAGGCAGGGCTGTAAA	0.493000														44			25		0	0	0.021523	0	0
ATP1B1	481	broad.mit.edu	37	1	169094257	169094257	+	Missense_Mutation	SNP	T	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr1:169094257T>G	uc001gfr.1	+	2	483	c.362T>G	c.(361-363)aTg>aGg	p.M121R		NM_001677	NP_001668	P05026	AT1B1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 1 polypeptide (ATP1B1), mRNA.	121					ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					AGGGATGACATGATTTTTGAA	0.373000														207			44		0	0	0.014410	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105433493	105433493	+	Silent	SNP	C	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr12:105433493C>T	uc001tlc.3	-	16	2170	c.2043G>A	c.(2041-2043)aaG>aaA	p.K681K	ALDH1L2_uc009zuo.3_Silent_p.K136K|ALDH1L2_uc009zup.3_Non-coding_Transcript	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L2 (ALDH1L2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	681	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						ACCAATACCTCTTCATGATCT	0.388000														83			16		0	0	0.028581	0	0
SLC2A11	66035	broad.mit.edu	37	22	24226511	24226511	+	Silent	SNP	C	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr22:24226511C>T	uc011ajc.1	+	9	1669	c.1179C>T	c.(1177-1179)gcC>gcT	p.A393A	SLC2A11_uc002zym.4_Silent_p.A402A|SLC2A11_uc002zyn.4_Silent_p.A395A|SLC2A11_uc002zyo.4_Non-coding_Transcript|SLC2A11_uc002zyp.4_Silent_p.A398A			Q9BYW1	GTR11_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 11 (SLC2A11), transcript variant 1, mRNA.	395						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GGATCCTGGCCACAGAGCTGT	0.652000														50			10		0	0	0.008291	0	0
DAPK1	1612	broad.mit.edu	37	9	90254289	90254289	+	Missense_Mutation	SNP	G	C	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr9:90254289G>C	uc004apc.3	+	4	582	c.444G>C	c.(442-444)ttG>ttC	p.L148F	DAPK1_uc004ape.3_Missense_Mutation_p.L148F|DAPK1_uc004apd.3_Missense_Mutation_p.L148F|DAPK1_uc011ltg.2_Missense_Mutation_p.L148F|DAPK1_uc011lth.2_5'UTR	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	148	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TAATGCTTTTGGATAGAAATG	0.363000									Chronic Lymphocytic Leukemia, Familial Clustering of					127			24		0	0	0.021523	0	0
ISL1	3670	broad.mit.edu	37	5	50683584	50683584	+	Splice_Site	SNP	G	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr5:50683584G>T	uc003jor.3	+	3	1026	c.478_splice	c.e3+1	p.A160_splice		NM_002202	NP_002193	P61371	ISL1_HUMAN	Homo sapiens ISL LIM homeobox 1 (ISL1), mRNA.	160					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				CAAATGGCAGGTACTCCTCTG	0.637000														26			13		7.93312e-07	8.74977e-07	0.020292	1	0
KIF27	55582	broad.mit.edu	37	9	86485505	86485505	+	Nonsense_Mutation	SNP	T	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr9:86485505T>A	uc004ana.3	-	11	2830	c.2686A>T	c.(2686-2688)Aaa>Taa	p.K896*	KIF27_uc010mpw.3_Nonsense_Mutation_p.K830*|KIF27_uc010mpx.3_Intron	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	896					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCCTCAGCTTTCGGTTTTAGA	0.363000														89			13		0	0	0.028581	0	0
PER2	8864	broad.mit.edu	37	2	239184526	239184526	+	Silent	SNP	A	C	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr2:239184526A>C	uc002vyc.3	-	3	543	c.306T>G	c.(304-306)tcT>tcG	p.S102S	PER2_uc010znv.1_Silent_p.S102S|PER2_uc010znw.1_Silent_p.S102S|PER2_uc010fyx.1_Silent_p.S102S	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	102					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CCACTTTCGAAGACTGGTCGC	0.502000														83			18		0	0	0.006122	0	0
ASXL1	171023	broad.mit.edu	37	20	31015986	31015986	+	Missense_Mutation	SNP	A	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr20:31015986A>G	uc021wbw.1	+	4	740	c.308A>G	c.(307-309)gAg>gGg	p.E103G	ASXL1_uc002wxr.2_Non-coding_Transcript|ASXL1_uc002wxs.3_Missense_Mutation_p.E102G|ASXL1_uc010geb.3_Missense_Mutation_p.E45G	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	103					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			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						GAGGAGCCAGAGGACACGGCT	0.532000			"""F, N, Mis"""		"""MDS, CMML"""									86			9		0	0	0.016723	0	0
OR51T1	401665	broad.mit.edu	37	11	4904096	4904096	+	Silent	SNP	A	C	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr11:4904096A>C	uc010qyp.2	+	0	1048	c.1048A>C	c.(1048-1050)Agg>Cgg	p.R350R		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	323					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGGGGTCTTAGGGGAAGATG	0.468000														89			8		0	0	0.004482	0	0
ZNF646	9726	broad.mit.edu	37	16	31090723	31090723	+	Silent	SNP	G	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr16:31090723G>A	uc002eap.3	+	1	3367	c.3078G>A	c.(3076-3078)gaG>gaA	p.E1026E	ZNF646_uc021tgu.1_Silent_p.E1026E	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	1026					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AGTCTCAAGAGGGAGCAGGCA	0.587000														163			27		0	0	0.006320	0	0
CHD4	1108	broad.mit.edu	37	12	6707540	6707540	+	Nonsense_Mutation	SNP	G	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr12:6707540G>A	uc001qpo.3	-	10	1698	c.1534C>T	c.(1534-1536)Cag>Tag	p.Q512*	CHD4_uc001qpn.3_Nonsense_Mutation_p.Q505*|CHD4_uc001qpp.3_Nonsense_Mutation_p.Q509*	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	512	Chromo 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GATGGTGGCTGACCCCACTTC	0.547000														192			36		0	0	0.019004	0	0
MCC	4163	broad.mit.edu	37	5	112458403	112458403	+	Silent	SNP	A	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr5:112458403A>T	uc003kql.4	-	5	1421	c.1005T>A	c.(1003-1005)tcT>tcA	p.S335S	MCC_uc003kqj.4_Silent_p.S145S|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Silent_p.S145S|MCC_uc010jcd.1_Silent_p.S107S	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	145					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TAACCATGGTAGACTGGTTTT	0.502000														53			5		0	0	0.021553	0	0
AOX1	316	broad.mit.edu	37	2	201478584	201478584	+	Silent	SNP	C	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr2:201478584C>T	uc002uvx.3	+	14	1607	c.1506C>T	c.(1504-1506)tcC>tcT	p.S502S	AOX1_uc010zhf.2_Silent_p.S58S|AOX1_uc010fsu.3_5'UTR	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	502					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ATGAAGTCTCCCTTTTGGGCT	0.478000														55			17		0	0	0.028581	0	0
FKBP4	2288	broad.mit.edu	37	12	2909578	2909578	+	Silent	SNP	T	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr12:2909578T>G	uc001qkz.3	+	7	1065	c.867T>G	c.(865-867)gcT>gcG	p.A289A		NM_002014	NP_002005	Q02790	FKBP4_HUMAN	Homo sapiens FK506 binding protein 4, 59kDa (FKBP4), mRNA.	289	Interaction with tubulin (By similarity).				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	ACAAGCAAGCTTTACTACAGT	0.483000														38			8		0	0	0.006214	0	0
NUMA1	4926	broad.mit.edu	37	11	71724282	71724282	+	Missense_Mutation	SNP	C	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr11:71724282C>T	uc001orl.1	-	14	4439	c.4267G>A	c.(4267-4269)Gct>Act	p.A1423T	NUMA1_uc009ysw.1_Missense_Mutation_p.A986T|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.A1423T|NUMA1_uc001orn.2_Missense_Mutation_p.A986T|NUMA1_uc009ysx.1_Missense_Mutation_p.A1423T|NUMA1_uc001oro.1_Missense_Mutation_p.A1423T	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	1423					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						AGCTGCTGAGCTGTTCGCTCC	0.672000			T	RARA	APL									81			19		0	0	0.010504	0	0
ZNF831	128611	broad.mit.edu	37	20	57769662	57769662	+	Silent	SNP	G	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr20:57769662G>A	uc002yan.3	+	0	3588	c.3588G>A	c.(3586-3588)gcG>gcA	p.A1196A		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1196						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTCTGCCCGCGGAGCAGAAGG	0.637000														39			3		0	0	0.004672	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413291	105413291	+	Nonsense_Mutation	SNP	C	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr14:105413291C>A	uc010axc.1	-	6	8617	c.8497G>T	c.(8497-8499)Gag>Tag	p.E2833*	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Nonsense_Mutation_p.E2733*	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2833						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCGAGGCCTCGATGGACTTG	0.582000														344			5		0.00198382	0.00214081	0.001984	1	0
ABCC5	10057	broad.mit.edu	37	3	183706444	183706444	+	Missense_Mutation	SNP	C	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr3:183706444C>T	uc003fmg.3	-	3	524	c.359G>A	c.(358-360)cGt>cAt	p.R120H	ABCC5_uc011bqt.2_5'UTR|ABCC5_uc010hxl.3_Missense_Mutation_p.R120H|ABCC5_uc003fmh.3_Missense_Mutation_p.R120H|ABCC5_uc010hxm.3_Non-coding_Transcript|ABCC5_uc010hxn.3_Missense_Mutation_p.R120H|ABCC5_uc010hxo.3_Missense_Mutation_p.R120H	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	120						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTGGGCCACACGGGCCAGAGA	0.527000														52			22		0	0	0.016522	0	0
DHX58	79132	broad.mit.edu	37	17	40262859	40262859	+	Missense_Mutation	SNP	T	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr17:40262859T>A	uc002hyw.3	-	4	666	c.443A>T	c.(442-444)cAg>cTg	p.Q148L	DHX58_uc002hyv.3_Non-coding_Transcript|DHX58_uc010wgf.1_Missense_Mutation_p.Q141L	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA.	148	Helicase ATP-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|RNA binding|helicase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTCTAGGTACTGGCTCATGAT	0.612000														95			19		0	0	0.012319	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43858498	43858498	+	Missense_Mutation	SNP	C	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr12:43858498C>T	uc010skx.2	-	9	1405	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	469	Disintegrin.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TATATTTCTTCATCTGGTTTG	0.403000														86			8		0	0	0.003080	0	0
DNAJB3	414061	broad.mit.edu	37	2	234652351	234652351	+	Missense_Mutation	SNP	G	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr2:234652351G>A	uc002vuz.3	-	0	311	c.212C>T	c.(211-213)gCg>gTg	p.A71V	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	71					protein folding		heat shock protein binding|unfolded protein binding										CTCCGCCCCCGCCTCGCCATA	0.627000														122			35		0	0	0.025465	0	0
HAS3	3038	broad.mit.edu	37	16	69143465	69143465	+	Missense_Mutation	SNP	T	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr16:69143465T>A	uc010cfh.3	+	1	391	c.167T>A	c.(166-168)cTg>cAg	p.L56Q	HAS3_uc002ewk.3_Missense_Mutation_p.L56Q|HAS3_uc010vlk.1_Missense_Mutation_p.L56Q|HAS3_uc002ewl.3_Missense_Mutation_p.L56Q	NM_001199280	NP_001186209	O00219	HAS3_HUMAN	Homo sapiens hyaluronan synthase 3 (HAS3), transcript variant 3, mRNA.	56					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GGCCTGCACCTGCTCATTCAG	0.657000														69			11		0	0	0.013537	0	0
GDPD4	220032	broad.mit.edu	37	11	76944148	76944148	+	Silent	SNP	G	C	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr11:76944148G>C	uc001oyf.3	-	12	1562	c.1311C>G	c.(1309-1311)gcC>gcG	p.A437A		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	437	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TGGAGCACCAGGCCAGTGAGA	0.468000														68			7		0	0	0.004482	0	0
ZNF366	167465	broad.mit.edu	37	5	71739940	71739940	+	Nonsense_Mutation	SNP	G	C	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr5:71739940G>C	uc003kce.1	-	4	2064	c.1878C>G	c.(1876-1878)taC>taG	p.Y626*		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCTCCACCTCGTAGCAGTTAT	0.667000														257			53		0	0	0.014410	0	0
ZNF773	374928	broad.mit.edu	37	19	58018032	58018032	+	Missense_Mutation	SNP	A	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr19:58018032A>G	uc002qox.3	+	3	709	c.569A>G	c.(568-570)cAt>cGt	p.H190R	ZNF773_uc002qoy.3_Missense_Mutation_p.H189R|ZNF773_uc021vcl.1_Intron	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	Homo sapiens zinc finger protein 773 (ZNF773), mRNA.	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		GGAAAAAGGCATTACAAATGC	0.473000														46			5		0	0	0.014758	0	0
NEIL3	55247	broad.mit.edu	37	4	178243705	178243705	+	Silent	SNP	C	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr4:178243705C>G	uc003iut.2	+	1	366	c.249C>G	c.(247-249)ctC>ctG	p.L83L	NEIL3_uc010irs.3_Intron	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA.	83					base-excision repair|nucleotide-excision repair	nucleus	DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		GGAAGGAGCTCTTTATGTACT	0.413000								Base excision repair (BER), DNA glycosylases						174			28		0	0	0.006320	0	0
CEACAM6	4680	broad.mit.edu	37	19	42260723	42260723	+	Missense_Mutation	SNP	G	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr19:42260723G>A	uc002orm.2	+	1	429	c.280G>A	c.(280-282)Gca>Aca	p.A94T		NM_002483	NP_002474	P40199	CEAM6_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA.	94	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		p.A94T(2)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CCCAGGGCCCGCATACAGTGG	0.463000														300			5		0	0	0.021553	0	0
FAM108A1	81926	broad.mit.edu	37	19	1880041	1880041	+	Missense_Mutation	SNP	A	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr19:1880041A>G	uc002luf.3	-	3	965	c.559T>C	c.(559-561)Tcc>Ccc	p.S187P	FAM108A1_uc002lud.3_Missense_Mutation_p.S118P|FAM108A1_uc002lue.3_Missense_Mutation_p.S136P|FAM108A1_uc002lug.3_Missense_Mutation_p.S136P	NM_031213	NP_112490	Q96GS6	F18A1_HUMAN	Homo sapiens family with sequence similarity 108, member A1 (FAM108A1), transcript variant 1, mRNA.	136						extracellular region	hydrolase activity			endometrium(2)|kidney(1)|lung(4)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(11;0.000137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGGCGGGAGCCCAGGCCA	0.632000														31			4		0	0	0.021553	0	0
ZNF773	374928	broad.mit.edu	37	19	58018029	58018029	+	Missense_Mutation	SNP	G	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr19:58018029G>A	uc002qox.3	+	3	706	c.566G>A	c.(565-567)aGg>aAg	p.R189K	ZNF773_uc002qoy.3_Missense_Mutation_p.R188K|ZNF773_uc021vcl.1_Intron	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	Homo sapiens zinc finger protein 773 (ZNF773), mRNA.	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		GCTGGAAAAAGGCATTACAAA	0.473000														43			5		0	0	0.014758	0	0
WASH2P	375260	broad.mit.edu	37	2	114355129	114355129	+	Missense_Mutation	SNP	G	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr2:114355129G>A	uc002tkh.3	+	3	564	c.506G>A	c.(505-507)cGc>cAc	p.R169H	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript|WASH2P_uc010fkz.1_Non-coding_Transcript|WASH2P_uc002tkf.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		GAGTCCATCCGCCAAGCTGGG	0.657000														20			3		0	0	0.014758	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142513635	142513635	+	Missense_Mutation	SNP	T	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr5:142513635T>A	uc011dbj.2	+	18	1837	c.1802T>A	c.(1801-1803)cTg>cAg	p.L601Q	ARHGAP26_uc003lmt.3_Missense_Mutation_p.L601Q|ARHGAP26_uc003lmw.3_Missense_Mutation_p.L601Q	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	601	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGAGGCCCCTGACGCTCTTC	0.582000														132			28		0	0	0.006320	0	0
C22orf26	55267	broad.mit.edu	37	22	46449683	46449683	+	Silent	SNP	G	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr22:46449683G>A	uc003bgq.1	-	0	342	c.291C>T	c.(289-291)caC>caT	p.H97H	MIRLET7BHG_uc011aqw.2_5'Flank|MIRLET7BHG_uc003bgr.4_5'Flank	NM_018280	NP_060750	Q9NV39	CV026_HUMAN	Homo sapiens chromosome 22 open reading frame 26 (C22orf26), mRNA.	97													Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.0784)|LUAD - Lung adenocarcinoma(64;0.247)		GCCTGGCACCGTGCCAGGCTC	0.751000														1			2		0	0	0.004672	0	0
PSMD5	5711	broad.mit.edu	37	9	123591454	123591454	+	Silent	SNP	T	C	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr9:123591454T>C	uc004bko.3	-	4	613	c.594A>G	c.(592-594)gaA>gaG	p.E198E	PSMD5_uc011lye.2_Silent_p.E155E	NM_005047	NP_005038	Q16401	PSMD5_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 (PSMD5), mRNA.	198					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome complex	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						AGTTTAAAGATTCTGGTGACA	0.398000														77			13		0	0	0.020292	0	0
SCG3	29106	broad.mit.edu	37	15	51993377	51993377	+	Silent	SNP	A	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr15:51993377A>G	uc002abh.3	+	9	1546	c.1143A>G	c.(1141-1143)ggA>ggG	p.G381G	SCG3_uc010ufz.2_Silent_p.G149G	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	381					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AGGAATATGGAAGCTTGAAGG	0.413000														74			20		0	0	0.007413	0	0
TBP	6908	broad.mit.edu	37	6	170871082	170871082	+	Silent	SNP	G	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr6:170871082G>A	uc003qxu.3	+	2	537	c.258G>A	c.(256-258)caG>caA	p.Q86Q	TBP_uc011ehf.2_Silent_p.Q66Q|TBP_uc003qxt.3_Silent_p.Q86Q|TBP_uc011ehg.1_Silent_p.Q86Q	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	86	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q86Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.612000														28			3		0	0	0.004672	0	0
FBXW10	10517	broad.mit.edu	37	17	18653137	18653137	+	Nonsense_Mutation	SNP	T	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr17:18653137T>A	uc002gul.3	+	2	1005	c.773T>A	c.(772-774)tTg>tAg	p.L258*	FBXW10_uc002guj.3_Nonsense_Mutation_p.L258*|FBXW10_uc002guk.3_Nonsense_Mutation_p.L258*|FBXW10_uc010cqh.2_Nonsense_Mutation_p.L258*	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	258										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TGCAATCTATTGGTTGACCTG	0.468000														139			29		0	0	0.008740	0	0
SPTAN1	6709	broad.mit.edu	37	9	131339498	131339498	+	Silent	SNP	T	C	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr9:131339498T>C	uc004bvl.4	+	6	1018	c.876T>C	c.(874-876)gcT>gcC	p.A292A	SPTAN1_uc011mbg.2_Silent_p.A292A|SPTAN1_uc011mbh.2_Silent_p.A304A|SPTAN1_uc004bvm.4_Silent_p.A292A|SPTAN1_uc004bvn.4_Silent_p.A292A	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	292					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GTGTTCAGGCTCTGCTTCGGA	0.473000														138			38		0	0	0.025465	0	0
AGT	183	broad.mit.edu	37	1	230845905	230845905	+	Missense_Mutation	SNP	G	T	T			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr1:230845905G>T	uc001hty.4	-	1	1200	c.692C>A	c.(691-693)aCc>aAc	p.T231N	AGT_uc009xff.3_Missense_Mutation_p.T203N	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	231					G-protein signaling, coupled to cGMP nucleotide second messenger|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	GACCACAGGGGTATAGAGAGC	0.597000														67			10		0.000442599	0.000481086	0.006214	1	0
LAIR1	3903	broad.mit.edu	37	19	54872527	54872527	+	Silent	SNP	C	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr19:54872527C>A	uc002qfk.1	-	2	670	c.360G>T	c.(358-360)gtG>gtT	p.V120V	LAIR1_uc002qfl.1_Silent_p.V120V|LAIR1_uc002qfm.1_Silent_p.V119V|LAIR1_uc002qfn.1_Silent_p.V119V|LAIR1_uc010yex.2_Silent_p.V113V|LAIR1_uc002qfo.3_Silent_p.V102V	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	120						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CCTCACCTTTCACCAGCAGCT	0.582000														130			31		3.99451e-17	4.53921e-17	0.009535	1	0
LBP	3929	broad.mit.edu	37	20	36989402	36989402	+	Silent	SNP	T	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr20:36989402T>G	uc002xic.1	+	5	668	c.633T>G	c.(631-633)ccT>ccG	p.P211P		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	211					Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				ATCTACAGCCTTATCTCCAAA	0.428000														139			21		0	0	0.018920	0	0
SBDS	51119	broad.mit.edu	37	7	66459200	66459200	+	Splice_Site	SNP	T	C	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr7:66459200T>C	uc003tvm.1	-	2	442	c.258_splice	c.e2+1	p.Q86_splice	TYW1_uc003tvn.3_5'Flank|TYW1_uc010lai.3_5'Flank	NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN	Homo sapiens Shwachman-Bodian-Diamond syndrome (SBDS), mRNA.	86					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|rRNA processing|ribosomal large subunit biogenesis	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|rRNA binding|ribosome binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						GTTACCCACCTGCTTACAGAT	0.378000			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome					128			26		0	0	0.007291	0	0
ENTPD7	57089	broad.mit.edu	37	10	101458575	101458575	+	Missense_Mutation	SNP	G	C	C			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr10:101458575G>C	uc009xwl.3	+	10	1656	c.1301G>C	c.(1300-1302)gGt>gCt	p.G434A	ENTPD7_uc001kqa.4_Missense_Mutation_p.G432A	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 7 (ENTPD7), mRNA.	432						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		TTGCGCATTGGTGGCCGCTAC	0.438000														44			10		0	0	0.008291	0	0
PCF11	51585	broad.mit.edu	37	11	82877690	82877690	+	Missense_Mutation	SNP	A	G	G			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr11:82877690A>G	uc001ozx.4	+	4	2096	c.1751A>G	c.(1750-1752)aAt>aGt	p.N584S	PCF11_uc010rsu.1_Missense_Mutation_p.N584S	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	584					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CCAAAGGAGAATGTAGAAAAC	0.393000														78			16		0	0	0.004990	0	0
C14orf159	80017	broad.mit.edu	37	14	91642321	91642321	+	Missense_Mutation	SNP	T	A	A			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr14:91642321T>A	uc001xyw.2	+	6	1003	c.651T>A	c.(649-651)gaT>gaA	p.D217E	C14orf159_uc010atv.1_Non-coding_Transcript|C14orf159_uc001xyy.2_Missense_Mutation_p.D217E|C14orf159_uc001xyz.2_Missense_Mutation_p.D88E|C14orf159_uc001xzb.2_Missense_Mutation_p.D212E|C14orf159_uc001xyx.2_Missense_Mutation_p.D200E|C14orf159_uc001xzc.2_Missense_Mutation_p.D212E|C14orf159_uc001xza.2_Missense_Mutation_p.D217E|C14orf159_uc001xyv.2_Missense_Mutation_p.D217E|C14orf159_uc001xze.2_Missense_Mutation_p.D212E	NM_001102368	NP_001095838	Q7Z3D6	CN159_HUMAN	Homo sapiens chromosome 14 open reading frame 159 (C14orf159), transcript variant 4, mRNA.	212						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		CCTACGGGGATGCCATGGTGT	0.527000														70			14		0	0	0.004990	0	0
SH3BP4	23677	broad.mit.edu	37	2	235962373	235962373	+	Frame_Shift_Del	DEL	C	-	-			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr2:235962373delC	uc002vvp.3	+	5	3198	c.2805delC	c.(2803-2805)ctcfs	p.L935fs	SH3BP4_uc010fym.3_Frame_Shift_Del_p.L917fs|SH3BP4_uc002vvq.3_Frame_Shift_Del_p.L935fs	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	935					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GGAAGCACCTCACTGGGACTC	0.592													---	135	---	---	34	---					
SCN11A	11280	broad.mit.edu	37	3	38891987	38891988	+	Frame_Shift_Del	DEL	GC	-	-			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr3:38891987_38891988delGC	uc021wvy.1	-	24	4510_4511	c.4311_4312delGC	c.(4309-4314)gtgcttfs	p.V1437fs	SCN11A_uc003cis.1_Frame_Shift_Del_p.V102fs	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1437					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGGAAAGAAGCACGACCACAC	0.347													---	99	---	---	39	---					
CABS1	85438	broad.mit.edu	37	4	71201158	71201158	+	Frame_Shift_Del	DEL	T	-	-			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr4:71201158delT	uc003hff.3	+	0	488	c.402delT	c.(400-402)gatfs	p.D134fs	CABS1_uc021xoz.1_Frame_Shift_Del_p.D134fs	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA.	134						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTTTAATAGATTTTTCCACTG	0.383													---	97	---	---	23	---					
LMBRD1	55788	broad.mit.edu	37	6	70451754	70451755	+	Frame_Shift_Ins	INS	-	AA	AA			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr6:70451754_70451755insAA	uc003pfa.3	-	5	764_765	c.488_489insTT	c.(487-489)ttgfs	p.L163fs	LMBRD1_uc003pez.3_Frame_Shift_Ins_p.L90fs|LMBRD1_uc010kal.3_Frame_Shift_Ins_p.L90fs|LMBRD1_uc003pfb.3_Non-coding_Transcript	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	Homo sapiens LMBR1 domain containing 1 (LMBRD1), mRNA.	163					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						TGGGAACATTCAATGGAACAAA	0.267													---	75	---	---	14	---					
TPBG	7162	broad.mit.edu	37	6	83075159	83075159	+	Frame_Shift_Del	DEL	G	-	-			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr6:83075159delG	uc003pjn.4	+	2	1417	c.481delG	c.(481-483)gctfs	p.A161fs	TPBG_uc003pjo.3_Frame_Shift_Del_p.A161fs|TPBG_uc021zcc.1_Frame_Shift_Del_p.A161fs	NM_006670	NP_006661	Q13641	TPBG_HUMAN	Homo sapiens trophoblast glycoprotein (TPBG), transcript variant 1, mRNA.	161					cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		CAGTCCCTTCGCTTTCTCGGG	0.667													---	179	---	---	31	---					
OR8I2	120586	broad.mit.edu	37	11	55861307	55861308	+	Frame_Shift_Ins	INS	-	T	T	rs112181516		TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr11:55861307_55861308insT	uc010rix.2	+	0	524_525	c.524_525insT	c.(523-525)catfs	p.H175fs		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H175fs*10(2)|p.C178fs*2(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AGCATCAATCATTTTTTTTGTG	0.441													---	213	---	---	7	---					
GRIP1	23426	broad.mit.edu	37	12	66838463	66838463	+	Frame_Shift_Del	DEL	T	-	-			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr12:66838463delT	uc001stk.3	-	11	1673	c.1432delA	c.(1432-1434)attfs	p.I478fs	GRIP1_uc010sta.1_Frame_Shift_Del_p.I422fs|GRIP1_uc001stj.3_Frame_Shift_Del_p.I260fs|GRIP1_uc001stm.3_Frame_Shift_Del_p.I478fs|GRIP1_uc001stl.1_Frame_Shift_Del_p.I370fs	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	530	PDZ 4.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCTGTTGGAATTCCATTGATG	0.458													---	84	---	---	22	---					
DCLK1	9201	broad.mit.edu	37	13	36382392	36382396	+	Frame_Shift_Del	DEL	GGAGA	-	-			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr13:36382392_36382396delGGAGA	uc001uvf.3	-	13	2111_2115	c.1828_1832delTCTCC	c.(1828-1833)tctccafs	p.S610fs	MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Frame_Shift_Del_p.S303fs|DCLK1_uc010teh.2_Frame_Shift_Del_p.S303fs|DCLK1_uc010abk.3_Frame_Shift_Del_p.S130fs	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	610	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.P611S(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ATCCCAGTATGGAGAAGGAAAGTCC	0.424													---	142	---	---	35	---					
F10	2159	broad.mit.edu	37	13	113803360	113803360	+	Frame_Shift_Del	DEL	C	-	-			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr13:113803360delC	uc001vsx.3	+	7	1053	c.996delC	c.(994-996)atcfs	p.I332fs	F10_uc001vsy.3_Frame_Shift_Del_p.S329fs	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	332	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGACCCCCATCACCTTCCGCA	0.632													---	166	---	---	28	---					
FANCM	57697	broad.mit.edu	37	14	45667882	45667882	+	Frame_Shift_Del	DEL	T	-	-			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr14:45667882delT	uc001wwd.4	+	21	5851	c.5752delT	c.(5752-5754)tatfs	p.Y1918fs	FANCM_uc010anf.3_Frame_Shift_Del_p.Y1892fs|FANCM_uc001wwe.4_Frame_Shift_Del_p.Y1454fs|FANCM_uc010ang.3_Frame_Shift_Del_p.Y1167fs	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	1918	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AACAAAGAGCTATGACAGCCT	0.363								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				---	87	---	---	22	---					
abParts	0	broad.mit.edu	37	14	106774086	106774087	+	Splice_Site	INS	-	AGTAATACACGGCA	AGTAATACACGGCA			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr14:106774086_106774087insAGTAATACACGGCA	uc021ser.1	-	684		c.18723_splice	c.e684+1							Parts of antibodies, mostly variable regions.																		GCCTCTTGCACGTGTCCTCAGC	0.550													---	13	---	---	6	---					
SRCAP	10847	broad.mit.edu	37	16	30723210	30723210	+	Frame_Shift_Del	DEL	A	-	-			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr16:30723210delA	uc002dze.1	+	11	1932	c.1547delA	c.(1546-1548)gaafs	p.E516fs	SRCAP_uc021tgn.1_Frame_Shift_Del_p.E516fs|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Del_p.E373fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	516	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GAGGAGGAAGAAACAAGTGGA	0.473													---	65	---	---	13	---					
CNOT1	23019	broad.mit.edu	37	16	58633189	58633190	+	Frame_Shift_Ins	INS	-	CCAC	CCAC			TCGA-B1-5398-01A-02D-1589-08	TCGA-B1-5398-10A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de6c652a-86c7-4cc3-b7ad-db199a1c4c7a	b2dcd77d-e773-4e2b-9af9-173ffcc421d0	g.chr16:58633189_58633190insCCAC	uc002env.3	-	1	345_346	c.52_53insGTGG	c.(52-54)gacfs	p.D18fs	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Frame_Shift_Ins_p.D18fs|CNOT1_uc002enx.3_Frame_Shift_Ins_p.D18fs|CNOT1_uc002enz.1_5'UTR	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	18				D -> G (in Ref. 1; CAD97851).	nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GGTTAAATTGTCCACCAGGTAG	0.490													---	97	---	---	25	---					
