Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DNAJC16	23341	broad.mit.edu	37	1	15892459	15892459	+	Missense_Mutation	SNP	C	C	G			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr1:15892459C>G	ENST00000375847.3	+	12	1808	c.1644C>G	c.(1642-1644)ttC>ttG	p.F548L	DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Missense_Mutation_p.F548L|DNAJC16_ENST00000375838.1_Missense_Mutation_p.F548L	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	548					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CTGCCCTCTTCATCCTCTTCG	0.443													74	258	---	---	---	---
UBAP2L	9898	broad.mit.edu	37	1	154224082	154224082	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr1:154224082C>A	ENST00000428931.1	+	14	1784	c.1617C>A	c.(1615-1617)agC>agA	p.S539R	UBAP2L_ENST00000271877.7_Missense_Mutation_p.S550R|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S539R|UBAP2L_ENST00000361546.2_Missense_Mutation_p.S539R	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	539					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCACCACGAGCGCCTCTTCAA	0.493													3	98	---	---	---	---
NUP210	23225	broad.mit.edu	37	3	13438886	13438886	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr3:13438886T>C	ENST00000254508.5	-	3	489	c.407A>G	c.(406-408)gAg>gGg	p.E136G		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	136					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GATCTTCAGCTCCAGGGGGGA	0.602													19	41	---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48623134	48623134	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr3:48623134G>T	ENST00000328333.8	-	30	3927	c.3820C>A	c.(3820-3822)Cct>Act	p.P1274T	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1274T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1274	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGAGGCCAGGGTCGCCAGGA	0.607													53	123	---	---	---	---
RASSF1	11186	broad.mit.edu	37	3	50369518	50369518	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr3:50369518T>C	ENST00000359365.4	-	3	531	c.425A>G	c.(424-426)tAc>tGc	p.Y142C	RASSF1_ENST00000327761.3_Missense_Mutation_p.Y72C|RASSF1_ENST00000357043.2_Missense_Mutation_p.Y146C|RASSF1_ENST00000395126.3_5'UTR	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN	Ras association (RalGDS/AF-6) domain family member 1	146					cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTGGGCATTGTACTCCTTGAT	0.557													3	103	---	---	---	---
GRXCR1	389207	broad.mit.edu	37	4	42895492	42895492	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:42895492G>A	ENST00000399770.2	+	1	209	c.209G>A	c.(208-210)gGt>gAt	p.G70D		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	70					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GAGTCAGAAGGTGATGAGAAT	0.463													4	154	---	---	---	---
SPATA18	132671	broad.mit.edu	37	4	52944970	52944970	+	Missense_Mutation	SNP	T	T	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:52944970T>A	ENST00000295213.4	+	8	1464	c.1090T>A	c.(1090-1092)Tct>Act	p.S364T	SPATA18_ENST00000419395.2_Missense_Mutation_p.S332T	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	364					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GTTGACACCATCTTATGTGGG	0.378													6	111	---	---	---	---
UGT2B11	10720	broad.mit.edu	37	4	70066349	70066349	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:70066349C>A	ENST00000446444.1	-	6	1407	c.1399G>T	c.(1399-1401)Gtc>Ttc	p.V467F	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	467					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TGGGGCATGACAAATTCAATC	0.438													27	99	---	---	---	---
HELQ	113510	broad.mit.edu	37	4	84368107	84368107	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:84368107T>C	ENST00000295488.3	-	4	1435	c.1273A>G	c.(1273-1275)Act>Gct	p.T425A	HELQ_ENST00000510985.1_Intron	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	425	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CTTCTTTTAGTTGGAGGAAAT	0.353								Other identified genes with known or suspected DNA repair function					12	48	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183675933	183675933	+	Silent	SNP	C	C	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:183675933C>T	ENST00000511685.1	+	22	4536	c.4413C>T	c.(4411-4413)ctC>ctT	p.L1471L	TENM3_ENST00000406950.2_Silent_p.L1471L|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		ATGCCAAACTCAGTGCCCCAT	0.498													14	46	---	---	---	---
TAS2R5	54429	broad.mit.edu	37	7	141490469	141490469	+	Missense_Mutation	SNP	A	A	G			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr7:141490469A>G	ENST00000247883.4	+	1	453	c.308A>G	c.(307-309)tAt>tGt	p.Y103C		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	103					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					AGTGTCTTCTATTGCAAGAAG	0.517													11	28	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151970814	151970814	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr7:151970814G>T	ENST00000355193.2	-	7	1206	c.988C>A	c.(988-990)Cac>Aac	p.H330N	KMT2C_ENST00000262189.6_Missense_Mutation_p.H330N					lysine (K)-specific methyltransferase 2C																		TGGTCAATGTGTTCTGGACAA	0.393													4	196	---	---	---	---
EN2	2020	broad.mit.edu	37	7	155255151	155255151	+	Silent	SNP	G	G	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr7:155255151G>A	ENST00000297375.4	+	2	1020	c.771G>A	c.(769-771)caG>caA	p.Q257Q		NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	257						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCAGCTGCAGAGGCTCAAGG	0.592													12	52	---	---	---	---
LPPR1	54886	broad.mit.edu	37	9	104086314	104086314	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr9:104086314C>A	ENST00000374874.3	+	8	1392	c.953C>A	c.(952-954)tCt>tAt	p.S318Y	LPPR1_ENST00000395056.2_Missense_Mutation_p.S318Y	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		318						integral to membrane	catalytic activity										CAGAATCACTCTGCGTCCATG	0.418													4	47	---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	95849072	95849072	+	Missense_Mutation	SNP	A	A	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr10:95849072A>T	ENST00000371375.1	+	1	221	c.221A>T	c.(220-222)gAg>gTg	p.E74V	PLCE1_ENST00000371380.3_Intron|PLCE1_ENST00000260766.3_Intron|RP11-429H9.4_ENST00000438899.1_RNA|PLCE1_ENST00000371385.3_Missense_Mutation_p.E74V			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	0					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCGCTCTCTGAGGTACCCAAT	0.512													6	79	---	---	---	---
ADAM12	8038	broad.mit.edu	37	10	128019054	128019054	+	Missense_Mutation	SNP	C	C	G			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr10:128019054C>G	ENST00000368679.4	-	2	422	c.113G>C	c.(112-114)aGa>aCa	p.R38T	ADAM12_ENST00000368676.4_Missense_Mutation_p.R38T	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	38					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TTCATCAGCTCTTCCTTGGTT	0.458													20	89	---	---	---	---
CPSF7	79869	broad.mit.edu	37	11	61196740	61196740	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr11:61196740T>C	ENST00000340437.4	-	2	177	c.97A>G	c.(97-99)Atc>Gtc	p.I33V	CPSF7_ENST00000448745.1_5'UTR|CPSF7_ENST00000541963.1_5'UTR|CPSF7_ENST00000394888.4_5'UTR|CPSF7_ENST00000439958.3_5'UTR	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	0					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GTCCGGAGGATGGACAAAGTA	0.502													18	61	---	---	---	---
PRKAG1	5571	broad.mit.edu	37	12	49399105	49399105	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr12:49399105T>C	ENST00000548065.1	-	5	749	c.293A>G	c.(292-294)tAc>tGc	p.Y98C	RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Y107C|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Y47C|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Y66C|PRKAG1_ENST00000395170.3_Missense_Mutation_p.Y14C			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	98	CBS 1.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						TGATTTATAGTAGCGGTGCAG	0.478													26	80	---	---	---	---
RPGRIP1	57096	broad.mit.edu	37	14	21790127	21790127	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr14:21790127G>T	ENST00000206660.6	+	13	1726	c.1726G>T	c.(1726-1728)Gaa>Taa	p.E576*	RPGRIP1_ENST00000382933.4_Nonsense_Mutation_p.E218*|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.E549*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.E549*|RPGRIP1_ENST00000400017.2_Nonsense_Mutation_p.E576*			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	576					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAAGCAGCTGGAAGGTATTTT	0.443													5	26	---	---	---	---
ARHGAP44	9912	broad.mit.edu	37	17	12847399	12847399	+	Silent	SNP	G	G	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr17:12847399G>A	ENST00000379672.5	+	10	1047	c.747G>A	c.(745-747)gaG>gaA	p.E249E	ARHGAP44_ENST00000340825.3_Silent_p.E249E|ARHGAP44_ENST00000262444.9_Silent_p.E249E	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	249	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CCTGGGTAGAGAAGCCTTCCT	0.572													3	13	---	---	---	---
CENPB	1059	broad.mit.edu	37	20	3766889	3766889	+	Missense_Mutation	SNP	A	A	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr20:3766889A>T	ENST00000379751.4	-	1	448	c.242T>A	c.(241-243)cTc>cAc	p.L81H		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	81	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CCAGGCGATGAGCAAGCCCTC	0.652													21	44	---	---	---	---
ZRSR2	8233	broad.mit.edu	37	X	15809137	15809137	+	Splice_Site	SNP	G	G	T			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chrX:15809137G>T	ENST00000307771.7	+	2	145		c.e2+1		ZRSR2_ENST00000468028.1_Splice_Site|ZRSR2_ENST00000380308.3_Splice_Site	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2						spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					AGAGACTCAGGTGATGGACTC	0.458			"""F, S, Mis"""		"""MDS, CLL"""								6	13	---	---	---	---
MIR4485	100616263	broad.mit.edu	37	M	2622	2622	+	RNA	SNP	G	G	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chrM:2622G>A	ENST00000387347.2	+	0	952					NR_039705.1																						tccttaaatagggacctgtat	0.507													14	6	---	---	---	---
MT-ND4	4538	broad.mit.edu	37	M	11383	11383	+	Silent	SNP	T	T	C			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chrM:11383T>C	ENST00000361381.2	+	1	624	c.624T>C	c.(622-624)ccT>ccC	p.P208P						mitochondrially encoded NADH dehydrogenase 4											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						GTAAAGATACCTCTTTACGGA	0.433													6	5	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49437439	49437440	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr12:49437439_49437440insA	ENST00000301067.7	-	23	5444_5445	c.5445_5446insT	c.(5443-5448)aaggaafs	p.E1816fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GTGGGGAGTTCCTTCCTTTCTG	0.525											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	45	---	---	---	---
ANKRD11	29123	broad.mit.edu	37	16	89349914	89349916	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr16:89349914_89349916delCTT	ENST00000301030.4	-	9	3494_3496	c.3034_3036delAAG	c.(3034-3036)aagdel	p.K1012del	ANKRD11_ENST00000378330.2_In_Frame_Del_p.K1012del	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1012	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGGGGCCATCCTTCTTCTCCTTC	0.512													27	94	---	---	---	---
