Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
COG1_chr17_73188055_73213507	73192818	CCGCGCCC others(87): Show CCGCGCCCGCCCCCGCGCCCGCGCCCGCCCCCGCCCCCTCGCGCCCGCCC CCTCGCGCCCGCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0094 a0003c0005t0001g0094	1	428	0.0023	-94	c.-25 others(103): Show c.-251_-158delCGCGCCCGCCCCCGCGCCCGCGCCCGCCCCCGCCCC CTCGCGCCCGCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCTCGCGCC CGCCCCCT	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		236		chr17	TogoVar
COL22A1_chr8_138583235_138919041	138805533	ATGTGTGT others(87): Show ATGTGTGTGATGGTATGTGTGATGGTGTGTTATGGTGTGTGTCTATGTGT GATGGTATGTGTTTGTGATGGTGTGGGACGGTGTGTGAGGGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02970.hp1 HG01884.hp2 HG02970.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0022 a0001c0006 a0002c0022	a0001c0006t0001 a0002c0022t0002 a0001c0006t0001 a0002c0022t0002	a0001c0006t0001g0113 a0002c0022t0002g0028 a0001c0006t0001g0113 a0002c0022t0002g0028	2	158	0.0127	-94	c.149 others(113): Show c.1494+2141_1494+2234delCACACCCTCACACACCGTCCCACACC ATCACAAACACATACCATCACACATAGACACACACCATAACACACCATCA CACATACCATCACACACA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	10/64			chr8	TogoVar
COL26A1_chr7_101357875_101564024	101489758	CTTTCTTT others(87): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0161 a0002c0003t0001g0161	1	174	0.0058	-94	c.385 others(113): Show c.385+41973_385+42066delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL6A2_chr21_46093112_46134801	46133686	AGGATGAG others(87): Show AGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGG ATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02257.hp2 HG02559.hp2 others(7): Show HG01891.hp1 HG02257.hp2 HG02559.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03453.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0005 a0001c0006t0006 a0002c0003t0006 a0001c0006t0005 a0001c0006t0006 a0002c0003t0006	a0001c0006t0005g0237 a0001c0006t0005g0238 a0001c0006t0006g0248 others(7): Show a0001c0006t0005g0237 a0001c0006t0005g0238 a0001c0006t0006g0248 a0001c0006t0006g0249 a0001c0006t0006g0250 a0001c0006t0006g0266 a0001c0006t0006g0267 a0001c0006t0006g0268 a0002c0003t0006g0065 a0002c0003t0006g0067	10	372	0.0269	-94	c.41 others(105): Show c.4196_*4289delGGATGAGCTCACCCGAGTCACACTGGACCAGGGC TCAGCCTATTCCGGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCA GCCTATTCCG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		3886		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46133686	AGGATGAG others(87): Show AGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGG ATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02257.hp2 HG02559.hp2 others(6): Show HG01891.hp1 HG02257.hp2 HG02559.hp2 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03453.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0001c0026 a0002c0013 a0001c0007 a0001c0026 a0002c0013	a0001c0007t0003 a0001c0026t0005 a0002c0013t0003 a0001c0007t0003 a0001c0026t0005 a0002c0013t0003	a0001c0007t0003g0246 a0001c0007t0003g0247 a0001c0007t0003g0263 others(6): Show a0001c0007t0003g0246 a0001c0007t0003g0247 a0001c0007t0003g0263 a0001c0007t0003g0264 a0001c0007t0003g0265 a0001c0026t0005g0233 a0001c0026t0005g0234 a0002c0013t0003g0067 a0002c0013t0003g0069	9	364	0.0247	-94	c.11 others(105): Show c.1135_*1228delGGATGAGCTCACCCGAGTCACACTGGACCAGGGC TCAGCCTATTCCGGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCA GCCTATTCCG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		839		chr21	TogoVar
CPSF2_chr14_92116969_92177145	92173327	ATATACGT others(87): Show ATATACGTATATATATATGTATATATATATACGTATATATATATGTATAT ATATACGTATATATATATATACACATATGTATATATATATATGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00642.hp1 others(47): Show HG00423.hp2 HG00438.hp2 HG00642.hp1 HG00673.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01258.hp1 HG01934.hp2 HG02027.hp2 HG02080.hp1 HG02148.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02523.hp2 HG02622.hp1 HG02683.hp1 HG02717.hp1 HG03195.hp2 HG03688.hp2 HG04184.hp2 NA18747.hp1 NA18941.hp2 NA18949.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp2 NA18961.hp2 NA18962.hp1 NA18965.hp2 NA18968.hp1 NA18970.hp1 NA18981.hp1 NA18988.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp2 NA19057.hp2 NA19065.hp2 NA19074.hp2 NA19085.hp2 NA19088.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 others(18): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0018 a0001c0001t0019 a0001c0001t0029 a0001c0001t0046 a0001c0001t0050 a0001c0001t0139 a0001c0001t0140 a0001c0001t0144 a0001c0001t0145 a0001c0001t0149 a0001c0001t0150 a0001c0001t0152 a0001c0001t0154 a0001c0001t0155 a0001c0001t0156 a0001c0001t0158 a0001c0001t0159 a0001c0001t0162	a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0025 others(47): Show a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0025 a0001c0001t0003g0052 a0001c0001t0003g0057 a0001c0001t0003g0059 a0001c0001t0003g0066 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0004g0010 a0001c0001t0004g0015 a0001c0001t0004g0027 a0001c0001t0004g0053 a0001c0001t0004g0061 a0001c0001t0004g0072 a0001c0001t0004g0081 a0001c0001t0004g0085 a0001c0001t0004g0104 a0001c0001t0004g0108 a0001c0001t0010g0010 a0001c0001t0010g0080 a0001c0001t0010g0100 a0001c0001t0010g0114 a0001c0001t0018g0062 a0001c0001t0018g0073 a0001c0001t0019g0086 a0001c0001t0019g0098 a0001c0001t0029g0135 a0001c0001t0029g0136 a0001c0001t0029g0140 a0001c0001t0046g0068 a0001c0001t0046g0111 a0001c0001t0050g0102 a0001c0001t0139g0082 a0001c0001t0140g0024 a0001c0001t0144g0065 a0001c0001t0145g0083 a0001c0001t0149g0029 a0001c0001t0150g0091 a0001c0001t0152g0015 a0001c0001t0154g0093 a0001c0001t0155g0075 a0001c0001t0156g0074 a0001c0001t0158g0069 a0001c0001t0159g0084 a0001c0001t0162g0009	50	388	0.1289	-94	c.11 others(107): Show c.11584_*11677delTATACGTATATATATATGTATATATATATACG TATATATATATGTATATATATACGTATATATATATATACACATATGTATA TATATATATGTG	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1183		chr14	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666999	GAAAGAAA others(87): Show GAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0133 a0002c0003t0015g0133	1	238	0.0042	-94	c.-39 others(115): Show c.-391-65228_-391-65135delTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTC CTTTCTTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4486136	TACATACA others(87): Show TACATACATATATATATATATACATACATATATATATATACATACATATA TATATATATATATACATACATATATATATATATATATATACATAC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0008 a0008	a0008c0067 a0008c0067	a0008c0067t0059 a0008c0067t0059	a0008c0067t0059g0079 a0008c0067t0059g0079	1	126	0.0079	-94	c.303 others(113): Show c.303-66165_303-66072delGTATGTATATATATATATATATATAT GTATGTATATATATATATATATATGTATGTATATATATATATGTATGTAT ATATATATATATGTATGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CST9L_chr20_23559732_23573484	23560999	CCTTCCTT others(87): Show CCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCT TTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	392	0.0026	-94	c.38 others(105): Show c.3855_*3948delAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAG GAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGGA AGGAAGGAAG	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3732		chr20	TogoVar
DCDC2_chr6_24166755_24363059	24359018	TTTTATAT others(87): Show TTTTATATTTTATATTTTATATATATTATATATTTTATATATCATATATA TTATATATCATATATTTTTATATATTATATATTTTATATATTATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0062 a0002c0002t0018g0062	1	216	0.0046	-94	c.-13 others(105): Show c.-1362_-1269delTATAATATATAAAATATATAATATATAAAAATAT ATGATATATAATATATATGATATATAAAATATATAATATATATAAAATAT AAAATATAAA	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding		960		chr6	TogoVar
DCLK2_chr4_150073445_150262438	150195343	TAATATTA others(87): Show TAATATTATATATTATATATATTATATAATATTATATAATATATATATTA TATAATATTATATATTATATATATTATATAATATTATATATTATA	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	116	0.0086	-94	c.859 others(111): Show c.859+2104_859+2197delAATATTATATATTATATATATTATATAA TATTATATAATATATATATTATATAATATTATATATTATATATATTATAT AATATTATATATTATA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	3/15			chr4	TogoVar
DENND4C_chr9_19225693_19379281	19235513	TGTGGGGC others(87): Show TGTGGGGCTTAAATGTTTTGAAGTGTTCTTTGTTTCATTCAAACCTAATT ATCTACCAATCCAGATTTATTATCTGTTGGTTTACAGAAGAGTCA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0146	1	292	0.0034	-94	c.-18 others(111): Show c.-18+4681_-18+4774delGTGGGGCTTAAATGTTTTGAAGTGTTCT TTGTTTCATTCAAACCTAATTATCTACCAATCCAGATTTATTATCTGTTG GTTTACAGAAGAGTCA	DENND4C	ENSG00000137145.21	transcript	ENST00000434457.7	protein_coding	1/32			chr9	TogoVar
DGKB_chr7_14140049_14907751	14242377	TAAGAGGT others(87): Show TAAGAGGTCATTCTGCCTCTACTTTGGCTTAGCTTATGTCACTCACAGTA AAGGTCACAAATCCTGACAGCTTTCGGTGCTTGAGACTCAGATTA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0069 a0001c0002t0003g0069	1	148	0.0068	-94	c.212 others(115): Show c.2123-64320_2123-64227delTAATCTGAGTCTCAAGCACCGAAA GCTGTCAGGATTTGTGACCTTTACTGTGAGTGACATAAGCTAAGCCAAAG TAGAGGCAGAATGACCTCTT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DIP2C_chr10_269201_694668	678685	GCTCCCCA others(87): Show GCTCCCCACACCCGTTCTCCCCACGCCCATGCTCCCCACACCCGTGCTCC CCGCGCCCATCTCTGCTCCCCATGTCCATGCTCCCCGCACCTGTC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	88	0.0114	-94	c.85+ others(111): Show c.85+10715_85+10808delGACAGGTGCGGGGAGCATGGACATGGGG AGCAGAGATGGGCGCGGGGAGCACGGGTGTGGGGAGCATGGGCGTGGGGA GAACGGGTGTGGGGAG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	678692	ACACCCGT others(87): Show ACACCCGTTCTCCCCACGCCCATGCTCCCCACACCCGTGCTCCCCGCGCC CATCTCTGCTCCCCATGTCCATGCTCCCCGCACCTGTCCTCCCTG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0001 a0001c0010t0002g0001	1	88	0.0114	-94	c.85+ others(111): Show c.85+10708_85+10801delCAGGGAGGACAGGTGCGGGGAGCATGGA CATGGGGAGCAGAGATGGGCGCGGGGAGCACGGGTGTGGGGAGCATGGGC GTGGGGAGAACGGGTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1013631	TGCCTCCA others(87): Show TGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCACTGTGTGAGACC AGGACAGACGATGCCTCCATTGTGTGTATGACCAGGACAGACGAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0020 a0001c0003t0014g0020	1	40	0.0250	-94	c.73+ others(113): Show c.73+105697_73+105790delCCTCCACTGTGTGAGACCAGGACAGA CGATGCCTCCATTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGT GTGTGACCAGGACAGACG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1015070	TGCCTCCA others(87): Show TGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCACTGTGTGAGACC AGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGAC	T T	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0038 a0002c0001t0007g0038	1	40	0.0250	-94	c.73+ others(113): Show c.73+107136_73+107229delCCTCCACTGTGTGAGACCAGGACAGA CGATGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGT GTGTGACCAGGACAGACG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1188961	CCGTACAC others(87): Show CCGTACACAGGGTTCGGGCCCCAGGCCGGTTCCGCGGTTGGGGTTGACCT TACACAGGGTTCGGGCCCCATGGCGGTTCCGCTGTTGGGGTTGAG	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA20300.hp1 HG02895.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0013 a0001c0003t0001 a0001c0003t0013	a0001c0003t0001g0027 a0001c0003t0013g0007 a0001c0003t0001g0027 a0001c0003t0013g0007	2	40	0.0500	-94	c.74- others(111): Show c.74-69888_74-69795delGTACACAGGGTTCGGGCCCCAGGCCGGT TCCGCGGTTGGGGTTGACCTTACACAGGGTTCGGGCCCCATGGCGGTTCC GCTGTTGGGGTTGAGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1189116	CGGGCCCC others(87): Show CGGGCCCCATGGCGGTTCCGCTGTTGGGGTTGAGCATACACAGGGTTCGG GCCCCAGGCCGATTCCGCGGTTGGGGTTGACCTTACACAGGATTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01891.hp2 HG02818.hp1 others(5): Show HG01496.hp2 HG01891.hp2 HG02818.hp1 HG02895.hp2 HG02976.hp1 HG03486.hp2 HG03516.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0009 others(3): Show a0001c0002 a0001c0003 a0001c0009 a0002c0001 a0002c0007 a0003c0005	a0001c0002t0006 a0001c0002t0027 a0001c0003t0001 others(5): Show a0001c0002t0006 a0001c0002t0027 a0001c0003t0001 a0001c0003t0014 a0001c0009t0012 a0002c0001t0002 a0002c0007t0008 a0003c0005t0004	a0001c0002t0006g0011 a0001c0002t0027g0023 a0001c0003t0001g0026 others(5): Show a0001c0002t0006g0011 a0001c0002t0027g0023 a0001c0003t0001g0026 a0001c0003t0014g0020 a0001c0009t0012g0006 a0002c0001t0002g0032 a0002c0007t0008g0040 a0003c0005t0004g0037	8	40	0.2000	-94	c.74- others(111): Show c.74-69726_74-69633delTGGCGGTTCCGCTGTTGGGGTTGAGCAT ACACAGGGTTCGGGCCCCAGGCCGATTCCGCGGTTGGGGTTGACCTTACA CAGGATTTGGGCCCCA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1642674	ACCCTCGA others(87): Show ACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGAACCCGCCGGCC CTCACCTGTGTCACCCTCGAACCCGCCGGCCCTCACCTGTGTCAC	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	-94	c.181 others(113): Show c.1810+9636_1810+9729delCCCCGCCGGCCCTCACCTGTGTCACC CTCGAACCCGCCGGCCCTCACCTGTGTCACCCTCGAACCCGCCGGCCCTC ACCTGTGTCACCCCTCGA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1642753	CCCTCACC others(87): Show CCCTCACCTGTGTCACCCCTCGAACCCGCCAGCCCTCACCTGTGTCACCC TCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGAACCCGCCGGT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0015 a0001c0011t0015	a0001c0011t0015g0002 a0001c0011t0015g0002	1	40	0.0250	-94	c.181 others(113): Show c.1810+9725_1810+9818delCTCGAACCCGCCAGCCCTCACCTGTG TCACCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGAACCCGCCGG TCCTCACCTGTGTCACCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK8_chr9_209865_470255	403900	ATATATAT others(87): Show ATATATATATATATATACATATATATATATGTGTATATATATATGTGTAT ATATATATATGTATATATATATATATGTGTATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03098.hp1 HG02615.hp2 HG03098.hp1	a0001 a0008 a0001 a0008	a0001c0032 a0008c0118 a0001c0032 a0008c0118	a0001c0032t0006 a0008c0118t0001 a0001c0032t0006 a0008c0118t0001	a0001c0032t0006g0127 a0008c0118t0001g0036 a0001c0032t0006g0127 a0008c0118t0001g0036	2	256	0.0078	-94	c.323 others(112): Show c.3235-1001_3235-908delCATATATATATATGTGTATATATATAT GTGTATATATATATATGTATATATATATATATGTGTATATATATATATGT GTATATATATATATATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPH7_chr9_137549444_137583925	137566633	CTCTGTCT others(87): Show CTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTC CCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp1 HG01071.hp1 others(8): Show HG00099.hp1 HG01069.hp1 HG01071.hp1 HG02293.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02717.hp2 NA18953.hp1 NA18981.hp2 NA19004.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0007 a0004c0004t0001 a0001c0001t0001 a0001c0001t0007 a0004c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 others(6): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0101 a0001c0001t0001g0149 a0001c0001t0007g0231 a0004c0004t0001g0137	11	340	0.0324	-94	c.641 others(111): Show c.641-1573_641-1480delCAGAGTCATCCAGGGGAGCTTCCTCACA GACAGAGTCACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCAGGGGAG CTTCCTCACAGACAGA	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPP6_chr7_154047398_154899285	154123682	CTTACCTG others(87): Show CTTACCTGGGACAAATGTGCCGCTCGCTCACGGGGCTTACCTGGGGACAG TTGTGCTGCCCGCTCGTGGGGCTTACCTGGGGACACTCACTATGA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01071.hp2 HG01433.hp2 others(12): Show HG00673.hp1 HG01071.hp2 HG01433.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp1 NA19043.hp1 NA19043.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(11): Show a0001c0001 a0001c0003 a0001c0006 a0001c0011 a0001c0016 a0001c0018 a0001c0020 a0001c0027 a0002c0004 a0002c0005 a0002c0012 a0002c0019 a0002c0023 a0002c0028	a0001c0001t0001 a0001c0003t0007 a0001c0006t0002 others(12): Show a0001c0001t0001 a0001c0003t0007 a0001c0006t0002 a0001c0006t0003 a0001c0011t0003 a0001c0016t0013 a0001c0018t0009 a0001c0020t0001 a0001c0027t0027 a0002c0004t0004 a0002c0005t0015 a0002c0012t0021 a0002c0019t0001 a0002c0023t0014 a0002c0028t0002	a0001c0001t0001g0019 a0001c0003t0007g0024 a0001c0006t0002g0015 others(12): Show a0001c0001t0001g0019 a0001c0003t0007g0024 a0001c0006t0002g0015 a0001c0006t0003g0013 a0001c0011t0003g0012 a0001c0016t0013g0014 a0001c0018t0009g0023 a0001c0020t0001g0010 a0001c0027t0027g0007 a0002c0004t0004g0008 a0002c0005t0015g0011 a0002c0012t0021g0035 a0002c0019t0001g0021 a0002c0023t0014g0017 a0002c0028t0002g0016	15	38	0.3947	-94	c.243 others(113): Show c.243+70726_243+70819delAATGTGCCGCTCGCTCACGGGGCTTA CCTGGGGACAGTTGTGCTGCCCGCTCGTGGGGCTTACCTGGGGACACTCA CTATGATTACCTGGGACA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPYD_chr1_97072743_97926034	97130751	CCCTTCCT others(87): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCCTCCTTCCCTCTCT CCCTCTTTCTTTCTTTCTTCCTTTCTTTCTTCTTTCTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG02004.hp2 others(3): Show HG00099.hp1 HG00735.hp1 HG02004.hp2 HG02895.hp1 HG03710.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0004c0004t0001 a0001c0001t0001 a0001c0001t0002 a0004c0004t0001	a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0044 others(3): Show a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0002g0043 a0004c0004t0001g0002	6	52	0.1154	-94	c.262 others(115): Show c.2623-32213_2623-32120delAAGGAAGGAGAAAGAAGAAAGAAA GGAAGAAAGAAAGAAAGAGGGAGAGAGGGAAGGAGGGAAGGAAAGGAAGG AAGGAAGGAAGGAAGGAAGG	DPYD	ENSG00000188641.14	transcript	ENST00000370192.8	protein_coding	20/22			chr1	TogoVar
DYNC1H1_chr14_101959573_102061443	101998152	TGCCTGGA others(87): Show TGCCTGGACCCCTCTCCCCTCTATAAACGCTGATCCGATAACACAAACGC CTGGACCCCTCTCCCCTCTATAGGCGCTGATCCGATAATACAAAC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0059 a0001c0032t0059	a0001c0032t0059g0155 a0001c0032t0059g0155	1	280	0.0036	-94	c.380 others(112): Show c.3804+950_3804+1043delGGCGCTGATCCGATAATACAAACGCCT GGACCCCTCTCCCCTCTATAAACGCTGATCCGATAACACAAACGCCTGGA CCCCTCTCCCCTCTATA	DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	16/77		INFO_REALIGN_3_PRIME	chr14	TogoVar
ELAC2_chr17_12986612_13023027	13019625	TCTGTAAT others(87): Show TCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGAATAGCTTCAGGC TAGTAGTTCAAAACCTGCTCTGTGGCCAGGCATGGTGGCTTATGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG00642.hp1 others(58): Show HG00323.hp1 HG00639.hp1 HG00642.hp1 HG00738.hp2 HG01070.hp2 HG01109.hp1 HG01175.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp2 HG02055.hp1 HG02056.hp2 HG02109.hp1 HG02257.hp1 HG02273.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02647.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18940.hp2 NA18955.hp1 NA18961.hp1 NA18971.hp1 NA19058.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0007 others(3): Show a0001c0001 a0002c0002 a0002c0007 a0002c0008 a0002c0019 a0003c0006	a0001c0001t0001 a0001c0001t0018 a0002c0002t0005 others(12): Show a0001c0001t0001 a0001c0001t0018 a0002c0002t0005 a0002c0002t0006 a0002c0002t0021 a0002c0002t0025 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0007t0017 a0002c0007t0038 a0002c0007t0039 a0002c0008t0012 a0002c0019t0034 a0003c0006t0006	a0001c0001t0001g0001 a0001c0001t0001g0110 a0001c0001t0001g0135 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0110 a0001c0001t0001g0135 a0001c0001t0018g0027 a0002c0002t0005g0005 a0002c0002t0005g0035 a0002c0002t0005g0071 a0002c0002t0005g0090 a0002c0002t0005g0091 a0002c0002t0005g0096 a0002c0002t0005g0097 a0002c0002t0005g0098 a0002c0002t0005g0099 a0002c0002t0005g0100 a0002c0002t0005g0101 a0002c0002t0005g0102 a0002c0002t0005g0103 a0002c0002t0005g0104 a0002c0002t0005g0105 a0002c0002t0006g0009 a0002c0002t0006g0018 a0002c0002t0006g0033 a0002c0002t0006g0078 a0002c0002t0006g0083 a0002c0002t0006g0085 a0002c0002t0006g0086 a0002c0002t0006g0261 a0002c0002t0021g0081 a0002c0002t0025g0060 a0002c0002t0028g0092 a0002c0002t0029g0087 a0002c0002t0030g0077 a0002c0007t0017g0032 a0002c0007t0017g0080 a0002c0007t0038g0082 a0002c0007t0039g0084 a0002c0008t0012g0034 a0002c0008t0012g0079 a0002c0008t0012g0094 a0002c0019t0034g0095 a0003c0006t0006g0010 a0003c0006t0006g0088 a0003c0006t0006g0089	61	400	0.1525	-94	c.-17 others(105): Show c.-1772_-1679delGCATAAGCCACCATGCCTGGCCACAGAGCAGGTT TTGAACTACTAGCCTGAAGCTATTCTCCCGCCTTGGCCTCCCAAAGTGCT GGGATTACAG	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		1599		chr17	TogoVar
ELFN1_chr7_1665277_1752946	1702444	AGACCCTC others(87): Show AGACCCTCCCTCACTCCACCTTGTTCTTTTTATTTAGTGACATTCTTGGC CTTTTTTTCTTCCATATACATTTTAGAATTAGTTTGTCAAGTTCC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp1 HG02886.hp1 others(1): Show HG02630.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0005 a0001c0001t0006 a0001c0005t0010 a0001c0001t0005 a0001c0001t0006 a0001c0005t0010	a0001c0001t0005g0150 a0001c0001t0006g0028 a0001c0005t0010g0147 others(1): Show a0001c0001t0005g0150 a0001c0001t0006g0028 a0001c0005t0010g0147 a0001c0005t0010g0148	4	302	0.0133	-94	c.-45 others(113): Show c.-455-6646_-455-6553delGACCCTCCCTCACTCCACCTTGTTCT TTTTATTTAGTGACATTCTTGGCCTTTTTTTCTTCCATATACATTTTAGA ATTAGTTTGTCAAGTTCC	ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	2/3			chr7	TogoVar
EML5_chr14_88607431_88797953	88796741	ATATATAT others(87): Show ATATATATTATATGTTTTATATATTATATATTATATATATTATATGTTAT ATATATTATATATTATATACATTATATGTTATATATATTATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02572.hp2 HG06807.hp2 HG02145.hp1 HG02572.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0026 a0001c0001t0003 a0001c0001t0026	a0001c0001t0003g0165 a0001c0001t0026g0293 a0001c0001t0026g0294 a0001c0001t0003g0165 a0001c0001t0026g0293 a0001c0001t0026g0294	3	332	0.0090	-94	c.-43 others(105): Show c.-4332_-4239delATATATAATATATATAACATATAATGTATATAAT ATATAATATATATAACATATAATATATATAATATATAATATATAAAACAT ATAATATATA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3789		chr14	TogoVar
ENTR1_chr9_136396922_136415614	136403229	CGGGGAGA others(87): Show CGGGGAGAAAGGTAAGGGGTTCCAGGGAGAAAGGGACAGAATTCTGGGGG GAGAAACAGAAGGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGG	C C	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0013 a0013	a0013c0024 a0013c0024	a0013c0024t0018 a0013c0024t0018	a0013c0024t0018g0080 a0013c0024t0018g0080	1	412	0.0024	-94	c.120 others(111): Show c.1209-436_1209-343delCCGGCAAACCCCACCCCTTGCTCCCTGG GACCCCTTCTGTTTCTCCCCCCAGAATTCTGTCCCTTTCTCCCTGGAACC CCTTACCTTTCTCCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
ENTR1_chr9_136396922_136415614	136403327	GAGAAAGG others(87): Show GAGAAAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAG AAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03927.hp2 HG03688.hp1 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0189 a0001c0002t0001g0190	2	412	0.0049	-94	c.120 others(111): Show c.1209-534_1209-441delTCCCCGGCAAACCCCACCCCTTGCTCCC TGGGACCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGG AACCCTGTCCCTTTCT	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
ENTR1_chr9_136396922_136415614	136403346	AGGGAGCA others(87): Show AGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCCCAGG GAGCAAGGGGTGGGGTTTGCCGGGGAAGAAAGGGACAGGGTTCCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG00741.hp1 others(52): Show HG00099.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01081.hp2 HG01109.hp2 HG01192.hp1 HG01243.hp2 HG01261.hp2 HG01358.hp1 HG01496.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02055.hp1 HG02132.hp2 HG02257.hp2 HG02273.hp2 HG02300.hp2 HG02559.hp1 HG02572.hp1 HG02698.hp1 HG02965.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03453.hp2 HG03654.hp2 HG03669.hp2 HG03834.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18747.hp2 NA18954.hp2 NA18959.hp2 NA18966.hp2 NA18971.hp1 NA18975.hp1 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA19005.hp1 NA19066.hp2 NA19067.hp2	a0001 a0003 a0011 others(1): Show a0001 a0003 a0011 a0012	a0001c0001 a0001c0002 a0003c0008 others(2): Show a0001c0001 a0001c0002 a0003c0008 a0011c0021 a0012c0022	a0001c0001t0001 a0001c0002t0003 a0001c0002t0005 others(9): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0013 a0001c0002t0014 a0003c0008t0003 a0011c0021t0003 a0012c0022t0003	a0001c0001t0001g0182 a0001c0002t0003g0004 a0001c0002t0003g0014 others(27): Show a0001c0001t0001g0182 a0001c0002t0003g0004 a0001c0002t0003g0014 a0001c0002t0003g0024 a0001c0002t0003g0025 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0058 a0001c0002t0003g0059 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0005g0017 a0001c0002t0005g0018 a0001c0002t0005g0096 a0001c0002t0005g0195 a0001c0002t0005g0205 a0001c0002t0007g0023 a0001c0002t0007g0051 a0001c0002t0008g0013 a0001c0002t0010g0223 a0001c0002t0010g0224 a0001c0002t0011g0055 a0001c0002t0013g0061 a0001c0002t0014g0063 a0003c0008t0003g0052 a0003c0008t0003g0053 a0003c0008t0003g0054 a0011c0021t0003g0060 a0012c0022t0003g0062	55	412	0.1335	-94	c.120 others(111): Show c.1209-553_1209-460delAGGAACCCTGTCCCTTTCTTCCCCGGCA AACCCCACCCCTTGCTCCCTGGGACCCTGTCCCTTTCTCCCCCGGCAAAC CCCACCCCTTGCTCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
ERC1_chr12_986223_1500931	1079284	CAAGTCGA others(87): Show CAAGTCGATATACAGAGATACAGATAGAAATGATTTGTAATATGACAAAA GTCGATATACAGAGATACAGATAGAAATGATTTGTAATATGACAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00544.hp2 others(76): Show HG00323.hp1 HG00408.hp2 HG00544.hp2 HG00639.hp2 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03927.hp1 HG04199.hp1 HG06807.hp1 NA18612.hp1 NA18949.hp2 NA18966.hp1 NA18982.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0008	a0001c0001 a0001c0003 a0001c0013 others(6): Show a0001c0001 a0001c0003 a0001c0013 a0002c0002 a0002c0006 a0002c0007 a0005c0010 a0007c0012 a0008c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(68): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0027 a0001c0001t0045 a0001c0001t0069 a0001c0001t0071 a0001c0001t0077 a0001c0001t0083 a0001c0001t0090 a0001c0001t0091 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0097 a0001c0001t0103 a0001c0001t0106 a0001c0001t0107 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0117 a0001c0001t0118 a0001c0001t0120 a0001c0001t0121 a0001c0001t0125 a0001c0001t0126 a0001c0001t0130 a0001c0001t0132 a0001c0001t0133 a0001c0001t0138 a0001c0001t0141 a0001c0003t0046 a0001c0003t0088 a0001c0003t0092 a0001c0013t0063 a0002c0002t0006 a0002c0002t0036 a0002c0002t0038 a0002c0002t0042 a0002c0002t0048 a0002c0002t0064 a0002c0002t0065 a0002c0002t0075 a0002c0002t0078 a0002c0002t0079 a0002c0002t0080 a0002c0002t0081 a0002c0002t0084 a0002c0002t0085 a0002c0002t0089 a0002c0002t0099 a0002c0002t0100 a0002c0002t0116 a0002c0002t0127 a0002c0002t0131 a0002c0002t0139 a0002c0002t0140 a0002c0006t0051 a0002c0007t0059 a0005c0010t0082 a0007c0012t0073 a0008c0011t0044	a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0003g0035 others(76): Show a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0003g0035 a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0008g0010 a0001c0001t0008g0086 a0001c0001t0009g0007 a0001c0001t0010g0009 a0001c0001t0011g0020 a0001c0001t0012g0018 a0001c0001t0012g0022 a0001c0001t0013g0005 a0001c0001t0013g0015 a0001c0001t0014g0027 a0001c0001t0014g0036 a0001c0001t0015g0023 a0001c0001t0015g0038 a0001c0001t0027g0119 a0001c0001t0045g0066 a0001c0001t0069g0092 a0001c0001t0071g0074 a0001c0001t0077g0012 a0001c0001t0083g0130 a0001c0001t0090g0032 a0001c0001t0091g0028 a0001c0001t0093g0008 a0001c0001t0094g0016 a0001c0001t0095g0019 a0001c0001t0097g0031 a0001c0001t0103g0132 a0001c0001t0106g0003 a0001c0001t0107g0006 a0001c0001t0109g0014 a0001c0001t0110g0013 a0001c0001t0111g0017 a0001c0001t0117g0001 a0001c0001t0118g0026 a0001c0001t0120g0024 a0001c0001t0121g0011 a0001c0001t0125g0033 a0001c0001t0126g0030 a0001c0001t0130g0102 a0001c0001t0132g0103 a0001c0001t0133g0094 a0001c0001t0138g0095 a0001c0001t0141g0002 a0001c0003t0046g0088 a0001c0003t0088g0021 a0001c0003t0092g0004 a0001c0013t0063g0077 a0002c0002t0006g0122 a0002c0002t0006g0125 a0002c0002t0036g0158 a0002c0002t0038g0082 a0002c0002t0042g0079 a0002c0002t0048g0070 a0002c0002t0064g0069 a0002c0002t0065g0072 a0002c0002t0075g0073 a0002c0002t0078g0128 a0002c0002t0079g0124 a0002c0002t0080g0127 a0002c0002t0081g0123 a0002c0002t0084g0025 a0002c0002t0085g0142 a0002c0002t0089g0037 a0002c0002t0099g0131 a0002c0002t0100g0134 a0002c0002t0116g0107 a0002c0002t0127g0155 a0002c0002t0131g0065 a0002c0002t0139g0096 a0002c0002t0140g0108 a0002c0006t0051g0081 a0002c0007t0059g0071 a0005c0010t0082g0126 a0007c0012t0073g0067 a0008c0011t0044g0068	79	162	0.4877	-94	c.670 others(111): Show c.670-3531_670-3438delCAGATAGAAATGATTTGTAATATGACAA AAGTCGATATACAGAGATACAGATAGAAATGATTTGTAATATGACAAAAG TCGATATACAGAGATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121789	ATCTCTAT others(87): Show ATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTAT CTATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTG	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0070 a0002c0002t0070	a0002c0002t0070g0138 a0002c0002t0070g0138	1	162	0.0062	-94	c.156 others(113): Show c.1569+5790_1569+5883delGTGTCTCTATCTCTATCTATCTCTAT CTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCT CTATCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122535	ATCTCTAT others(87): Show ATCTCTATCTGTGTCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTAT CTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTGTGTCTC	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0065 a0002c0002t0065	a0002c0002t0065g0072 a0002c0002t0065g0072	1	162	0.0062	-94	c.156 others(113): Show c.1569+6504_1569+6597delCTCTATCTGTGTCTCTATCTCTATCT CTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCT ATCTCTATCTGTGTCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ESPNL_chr2_238095340_238138287	238119457	AGATGAAG others(87): Show AGATGAAGGAGGAATGGATGGAGGAGGTGGATGGAGGAGGTGGATGGAGG AGGTGGGTGGAGGAGGGGAGATGGAGGAGGTGGATGGAGGAGGTG	A A	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0023 a0023	a0023c0065 a0023c0065	a0023c0065t0003 a0023c0065t0003	a0023c0065t0003g0094 a0023c0065t0003g0094	1	408	0.0025	-94	c.987 others(111): Show c.987+2476_987+2569delTGGGTGGAGGAGGGGAGATGGAGGAGGT GGATGGAGGAGGTGGATGAAGGAGGAATGGATGGAGGAGGTGGATGGAGG AGGTGGATGGAGGAGG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ETNPPL_chr4_108737053_108768053	108747162	TATTATAT others(87): Show TATTATATATATATATATAATATATATATATATTATATATATATATAATA TATATATATATATTATATATATATATATAATATATATATATATTA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	378	0.0027	-94	c.108 others(111): Show c.1083-405_1083-312delTAATATATATATATATTATATATATATA TATAATATATATATATATATTATATATATATATAATATATATATATATTA TATATATATATATAAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	9/12			chr4	TogoVar
ETS1_chr11_128453765_128592558	128585068	GAAAGAAA others(87): Show GAAAGAAAGAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAGGAAGGAAGGA AAGAAAGAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0221 a0001c0001t0004g0221	1	286	0.0035	-94	c.-15 others(111): Show c.-15+2326_-15+2419delTTCTTTCTTTCTTTCTTTCTTTCTTTTC TTTCTTTCTTCTTTCTTTCCTTCCTTCCTTCCTTTCTTTCTTTCCTTTCT TTCTTTCTCTTTCTTT	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9			chr11	TogoVar
ETS1_chr11_128453765_128592558	128585103	GGAAGGAA others(87): Show GGAAGGAAGGAAGGAAAGAAAGAAGAAAGAAAGAAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	286	0.0035	-94	c.-15 others(111): Show c.-15+2291_-15+2384delTTTCCTTCCTTCTTTCTTTCTTTCTTTC TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTCTTTC TTTCCTTCCTTCCTTC	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9			chr11	TogoVar
EYS_chr6_63714980_65712226	64296528	ATTGTACT others(87): Show ATTGTACTGGCAGAATATATATATATATATATATATATATATATATATAT ATATATACATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02451.hp1 HG02622.hp2 others(4): Show HG01169.hp1 HG02451.hp1 HG02622.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp2 HG03209.hp1	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0013 a0014 a0015 a0021	a0001c0012 a0003c0002 a0005c0010 others(4): Show a0001c0012 a0003c0002 a0005c0010 a0013c0020 a0014c0004 a0015c0011 a0021c0024	a0001c0012t0002 a0003c0002t0002 a0005c0010t0001 others(4): Show a0001c0012t0002 a0003c0002t0002 a0005c0010t0001 a0013c0020t0002 a0014c0004t0002 a0015c0011t0002 a0021c0024t0001	a0001c0012t0002g0021 a0003c0002t0002g0019 a0005c0010t0001g0015 others(4): Show a0001c0012t0002g0021 a0003c0002t0002g0019 a0005c0010t0001g0015 a0013c0020t0002g0022 a0014c0004t0002g0024 a0015c0011t0002g0018 a0021c0024t0001g0001	7	24	0.2917	-94	c.619 others(115): Show c.6191+10348_6191+10441delAAAAAAAAAAAAAAAAAAAAAAAA TATATATATATATGTATATATATATATATATATATATATATATATATATA TATATATTCTGCCAGTACAA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	30/42			chr6	TogoVar
EZR_chr6_158760748_158824368	158803542	TATGTATA others(87): Show TATGTATATATATATATATATATATATATATATATATATACATATATATA TATATATATATATACATATATATATATATATATACATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01257.hp2 HG02273.hp1 others(8): Show HG00323.hp2 HG01257.hp2 HG02273.hp1 HG02895.hp1 HG03209.hp1 HG03491.hp1 HG03688.hp1 HG03927.hp2 NA18948.hp1 NA19088.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0001c0001t0002 a0001c0001t0006 a0001c0001t0014	a0001c0001t0002g0178 a0001c0001t0002g0181 a0001c0001t0002g0182 others(8): Show a0001c0001t0002g0178 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0237 a0001c0001t0002g0250 a0001c0001t0002g0256 a0001c0001t0006g0232 a0001c0001t0006g0263 a0001c0001t0014g0272	11	312	0.0353	-94	c.13- others(111): Show c.13-14265_13-14172delGTATGTATATGTATATATATATATATAT ATGTATATATATATATATATATATATGTATATATATATATATATATATAT ATATATATATATACAT	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13			chr6	TogoVar
FAF1_chr1_50432028_50965267	50819684	TATATATA others(87): Show TATATATACATATATATATACATATATATATACGTATATATATATACATA TATATACATATATATATACATATATATATACGTATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG00673.hp2 others(24): Show HG00438.hp2 HG00621.hp1 HG00673.hp2 HG01070.hp2 HG01081.hp1 HG01257.hp1 HG01258.hp2 HG01517.hp2 HG02071.hp2 HG02132.hp2 HG02135.hp2 HG02630.hp1 HG03704.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18964.hp2 NA18970.hp1 NA18979.hp1 NA18984.hp1 NA19002.hp1 NA19010.hp1 NA19043.hp2 NA19060.hp2 NA19074.hp1 NA19240.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0016 others(2): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0038	a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0021 others(24): Show a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0011g0020 a0001c0001t0011g0023 a0001c0001t0011g0030 a0001c0001t0011g0038 a0001c0001t0016g0006 a0001c0001t0016g0027 a0001c0001t0017g0019 a0001c0001t0017g0026 a0001c0001t0017g0034 a0001c0001t0038g0033	27	190	0.1421	-94	c.115 others(113): Show c.115-18101_115-18008delGTATATATATATACGTATATATATAT GTATATATATATGTATATATATGTATATATATATACGTATATATATATGT ATATATATATGTATATAT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	2/18			chr1	TogoVar
FAM118B_chr11_126206782_126267968	126226100	AAGGCCAG others(87): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	346	0.0029	-94	c.-76 others(111): Show c.-76-2797_-76-2704delGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM210A_chr18_13658347_13731558	13675887	GCTTCTTT others(87): Show GCTTCTTTATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCGACCTC TTTATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCGTGGTAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00558.hp1 others(55): Show HG00140.hp1 HG00280.hp1 HG00558.hp1 HG00558.hp2 HG00733.hp2 HG00741.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01258.hp2 HG01433.hp2 HG01952.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02083.hp1 HG02135.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02738.hp1 HG02886.hp2 HG02922.hp2 HG03139.hp1 HG03492.hp2 HG03654.hp1 HG03710.hp1 NA18522.hp2 NA18942.hp2 NA18948.hp1 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18968.hp1 NA18968.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18990.hp1 NA18998.hp2 NA19004.hp1 NA19084.hp1 NA19091.hp1 NA19091.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0005 a0001c0001 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0016 a0001c0001t0020 a0001c0001t0028 a0001c0001t0036 a0001c0003t0001 a0001c0003t0032 a0003c0005t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 others(53): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0005g0147 a0001c0001t0005g0203 a0001c0001t0007g0052 a0001c0001t0007g0054 a0001c0001t0007g0055 a0001c0001t0007g0056 a0001c0001t0008g0160 a0001c0001t0013g0048 a0001c0001t0016g0030 a0001c0001t0016g0031 a0001c0001t0020g0007 a0001c0001t0028g0038 a0001c0001t0036g0195 a0001c0003t0001g0142 a0001c0003t0032g0037 a0003c0005t0001g0189	58	326	0.1779	-94	c.474 others(111): Show c.474-4008_474-3915delTTACCACGGCTCAGGAATGTTAATAATC AGGAAACTGGAAATAAAGAGGTCGGGCTCAGGAATGTTAATAATCAGGAA ACTGGAAATAAAGAAG	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FOLR1_chr11_72187140_72201299	72201205	CACGTATA others(87): Show CACGTATACACGTATACGTATGTACACGTATACACGTATACGTATGTACA CGTATACACGTATACGTATGTACACGTATACACGTATACGTATGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG03041.hp1 HG02717.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	2	412	0.0049	-94	c.50 others(105): Show c.5029_*5122delACGTATACACGTATACGTATGTACACGTATACAC GTATACGTATGTACACGTATACACGTATACGTATGTACACGTATACACGT ATACGTATGT	FOLR1	ENSG00000110195.14	transcript	ENST00000393676.5	protein_coding		4907		chr11	TogoVar
FOXN3_chr14_89151177_89422233	89361360	CCACCACC others(87): Show CCACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCTCC ACCACCACCACCTCCACCACCACCTCCTACCACTACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01934.hp1 HG01346.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0195 a0001c0001t0005g0213 a0001c0001t0005g0195 a0001c0001t0005g0213	2	230	0.0087	-94	c.544 others(113): Show c.544-10646_544-10553delCTGGAGGTGGTAGTGGTAGGAGGTGG TGGTGGAGGTGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGAG GTGGTGCTGGAGGTGGTG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FRMD1_chr6_168048095_168084212	168077330	ATGAGGGG others(87): Show ATGAGGGGTTCCTGTCCAACTGCAGACACAGATGTGCACACACCCTGTGG GGGGGTTCCTGTCTAACTGCAGACATAGATGACTGCACAACCCAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(262): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19003.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19085.hp2 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0012 a0001c0021 a0001c0024 a0002c0011 a0003c0023 a0004c0008 a0005c0009 a0006c0013 a0007c0017 a0009c0019 a0010c0020 a0011c0018 a0012c0016	a0001c0001t0001 a0001c0001t0011 a0001c0001t0017 others(52): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0035 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0002t0002 a0001c0002t0004 a0001c0002t0009 a0001c0002t0020 a0001c0002t0021 a0001c0002t0022 a0001c0002t0025 a0001c0002t0050 a0001c0002t0060 a0001c0002t0067 a0001c0004t0004 a0001c0004t0010 a0001c0004t0014 a0001c0004t0017 a0001c0004t0019 a0001c0004t0037 a0001c0004t0039 a0001c0004t0049 a0001c0004t0053 a0001c0004t0054 a0001c0004t0056 a0001c0004t0058 a0001c0004t0059 a0001c0007t0068 a0001c0012t0002 a0001c0012t0051 a0001c0021t0001 a0001c0024t0030 a0002c0011t0016 a0002c0011t0036 a0002c0011t0038 a0003c0023t0016 a0004c0008t0009 a0004c0008t0052 a0005c0009t0002 a0006c0013t0002 a0007c0017t0055 a0009c0019t0021 a0010c0020t0011 a0011c0018t0057 a0012c0016t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(144): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0011g0014 a0001c0001t0017g0111 a0001c0001t0018g0032 a0001c0001t0035g0098 a0001c0001t0040g0191 a0001c0001t0041g0151 a0001c0001t0042g0109 a0001c0001t0043g0197 a0001c0001t0044g0138 a0001c0001t0045g0108 a0001c0001t0046g0139 a0001c0001t0047g0148 a0001c0001t0048g0149 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0026 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0048 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0127 a0001c0002t0002g0130 a0001c0002t0002g0172 a0001c0002t0002g0177 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0198 a0001c0002t0004g0122 a0001c0002t0004g0179 a0001c0002t0009g0012 a0001c0002t0009g0105 a0001c0002t0009g0128 a0001c0002t0020g0118 a0001c0002t0020g0125 a0001c0002t0021g0189 a0001c0002t0022g0046 a0001c0002t0025g0227 a0001c0002t0050g0121 a0001c0002t0060g0123 a0001c0002t0067g0228 a0001c0004t0004g0007 a0001c0004t0004g0023 a0001c0004t0004g0024 a0001c0004t0004g0040 a0001c0004t0004g0041 a0001c0004t0004g0112 a0001c0004t0004g0113 a0001c0004t0004g0136 a0001c0004t0004g0137 a0001c0004t0004g0162 a0001c0004t0004g0164 a0001c0004t0004g0165 a0001c0004t0004g0169 a0001c0004t0004g0186 a0001c0004t0004g0196 a0001c0004t0010g0022 a0001c0004t0010g0043 a0001c0004t0010g0154 a0001c0004t0010g0155 a0001c0004t0014g0115 a0001c0004t0014g0170 a0001c0004t0014g0171 a0001c0004t0014g0199 a0001c0004t0017g0144 a0001c0004t0019g0124 a0001c0004t0019g0200 a0001c0004t0037g0188 a0001c0004t0039g0183 a0001c0004t0049g0166 a0001c0004t0053g0167 a0001c0004t0054g0101 a0001c0004t0056g0168 a0001c0004t0058g0156 a0001c0004t0059g0161 a0001c0007t0068g0206 a0001c0012t0002g0044 a0001c0012t0051g0180 a0001c0021t0001g0104 a0001c0024t0030g0078 a0002c0011t0016g0099 a0002c0011t0036g0129 a0002c0011t0038g0100 a0003c0023t0016g0187 a0004c0008t0009g0020 a0004c0008t0052g0126 a0005c0009t0002g0011 a0006c0013t0002g0045 a0007c0017t0055g0163 a0009c0019t0021g0195 a0010c0020t0011g0150 a0011c0018t0057g0114 a0012c0016t0002g0178	265	402	0.6592	-94	c.213 others(111): Show c.213+1458_213+1551delCTGGGTTGTGCAGTCATCTATGTCTGCA GTTAGACAGGAACCCCCCCACAGGGTGTGTGCACATCTGTGTCTGCAGTT GGACAGGAACCCCTCA	FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	1/10			chr6	TogoVar
FTCD_chr21_46131779_46160579	46133592	GGGATAAG others(87): Show GGGATAAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGG ATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0082 a0001c0002t0006g0082	1	230	0.0044	-94	c.33 others(105): Show c.3301_*3394delTAGAATAGGCTGAGCCCTGGTCCAGTGTGACTCG GGTGAGCTCATCCCGGAATAGGCTGAGCCCTGGTCCAGTGTGACTCGGGT GAGCTTATCC	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		3186		chr21	TogoVar
FTCD_chr21_46131779_46160579	46133686	AGGATGAG others(87): Show AGGATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCGGG ATGAGCTCACCCGAGTCACACTGGACCAGGGCTCAGCCTATTCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02559.hp2 HG02886.hp2 others(4): Show HG02257.hp2 HG02559.hp2 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0018 a0001c0001 a0001c0002 a0002c0018	a0001c0001t0006 a0001c0002t0006 a0002c0018t0002 a0001c0001t0006 a0001c0002t0006 a0002c0018t0002	a0001c0001t0006g0124 a0001c0001t0006g0126 a0001c0001t0006g0171 others(4): Show a0001c0001t0006g0124 a0001c0001t0006g0126 a0001c0001t0006g0171 a0001c0002t0006g0083 a0001c0002t0006g0111 a0001c0002t0006g0123 a0002c0018t0002g0129	7	230	0.0304	-94	c.32 others(105): Show c.3207_*3300delCGGAATAGGCTGAGCCCTGGTCCAGTGTGACTCG GGTGAGCTCATCCCGGAATAGGCTGAGCCCTGGTCCAGTGTGACTCGGGT GAGCTCATCC	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		3092		chr21	TogoVar
GABRG1_chr4_46030769_46129054	46117826	ATATATAC others(87): Show ATATATACATATGTATACATGTGTATCTATATACATATATACATATGTAT ACATGTGTATCTATATACATATATACATATGTATACATGTGTATC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02896.hp1 HG02897.hp2 others(1): Show HG01891.hp1 HG02896.hp1 HG02897.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0007	a0001c0001t0001g0301 a0001c0002t0007g0298 a0001c0002t0007g0299 others(1): Show a0001c0001t0001g0301 a0001c0002t0007g0298 a0001c0002t0007g0299 a0001c0002t0007g0300	4	308	0.0130	-94	c.104 others(111): Show c.104+5890_104+5983delGATACACATGTATACATATGTATATATG TATATAGATACACATGTATACATATGTATATATGTATATAGATACACATG TATACATATGTATATA	GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	1/8			chr4	TogoVar

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Search Results (Total: 10000 hits)