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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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
A2ML1_chr12_8817621_8881787	8845861	AAAATAAA others(21): Show AAAATAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0040 a0004c0040	a0004c0040t0004 a0004c0040t0004	a0004c0040t0004g0219 a0004c0040t0004g0219	1	368	0.0027	-28	c.153 others(45): Show c.1538-212_1538-185delTAAATAAAATAAAATAAAATAAAATAAA	A2ML1	ENSG00000166535.20	transcript	ENST00000299698.12	protein_coding	13/35		INFO_REALIGN_3_PRIME	chr12	TogoVar
AAAS_chr12_53302460_53326610	53321288	AGTCCCCG others(21): Show AGTCCCCGACTCCGCCCCCATGCCTGTAG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp2 NA18973.hp1 others(2): Show HG00609.hp1 HG00673.hp2 NA18973.hp1 NA18981.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0185 a0001c0001t0001g0186 others(1): Show a0001c0001t0001g0047 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187	5	330	0.0152	-28	c.123 others(41): Show c.123+27_123+54delCTACAGGCATGGGGGCGGAGTCGGGGAC	AAAS	ENSG00000094914.14	transcript	ENST00000209873.9	protein_coding	1/15			chr12	TogoVar
AACS_chr12_125060435_125148316	125110189	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0060 a0001c0001t0005g0060	1	364	0.0028	-28	c.915 others(45): Show c.915+2955_915+2982delGTGTGTGTGTGTGTGTGTGTGTGTGTGT	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABAT_chr16_8669617_8789570	8754662	ATTTATTT others(21): Show ATTTATTTATTTCTTTCTTTCTTTCTTTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01891.hp1 HG01943.hp1 others(7): Show HG00099.hp2 HG01891.hp1 HG01943.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03688.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 others(2): Show a0001c0001 a0002c0002 a0002c0005 a0002c0008 a0002c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0002c0002t0008 a0002c0005t0001 a0002c0008t0003 a0002c0012t0002	a0001c0001t0002g0049 a0001c0001t0003g0029 a0001c0001t0006g0303 others(7): Show a0001c0001t0002g0049 a0001c0001t0003g0029 a0001c0001t0006g0303 a0001c0001t0006g0312 a0002c0002t0008g0106 a0002c0005t0001g0237 a0002c0008t0003g0015 a0002c0008t0003g0028 a0002c0012t0002g0339 a0002c0012t0002g0346	10	362	0.0276	-28	c.317 others(45): Show c.317-3091_317-3064delATTTATTTCTTTCTTTCTTTCTTTCTTT	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8772252	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	362	0.0028	-28	c.817 others(43): Show c.817-503_817-476delTGTGTGTGTGTGTGTGTGTGTGTGTGTG	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69211302	CATCATAT others(21): Show CATCATATATATGATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0215 a0005c0005t0004g0216 a0005c0005t0004g0240 a0005c0005t0004g0215 a0005c0005t0004g0216 a0005c0005t0004g0240	3	348	0.0086	-28	c.100 others(47): Show c.1006+3374_1006+3401delATATATATATATATATCATATATATG AT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA1_chr9_104776006_104933155	104862644	CGGGCCGG others(21): Show CGGGCCGGGCCGGGCCGGGCCGGGCCGGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01261.hp2 HG00099.hp2 HG01261.hp2	a0003 a0010 a0003 a0010	a0003c0009 a0010c0007 a0003c0009 a0010c0007	a0003c0009t0003 a0010c0007t0010 a0003c0009t0003 a0010c0007t0010	a0003c0009t0003g0209 a0010c0007t0010g0185 a0003c0009t0003g0209 a0010c0007t0010g0185	2	318	0.0063	-28	c.422 others(43): Show c.422-872_422-845delCCCGGCCCGGCCCGGCCCGGCCCGGCCC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104862649	CGGGCCGG others(21): Show CGGGCCGGGCCGGGCCGGGCCGGGCCGGG	C C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA19090.hp1 NA18747.hp1 NA19090.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0004 a0001c0005t0002 a0001c0005t0004	a0001c0005t0002g0064 a0001c0005t0004g0167 a0001c0005t0002g0064 a0001c0005t0004g0167	2	318	0.0063	-28	c.422 others(43): Show c.422-877_422-850delCCCGGCCCGGCCCGGCCCGGCCCGGCCC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104862664	CGGGCCGG others(21): Show CGGGCCGGGCCGGGCCGGGCCGGGCCGGG	C C	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0007 a0007	a0007c0003 a0007c0003	a0007c0003t0009 a0007c0003t0009	a0007c0003t0009g0260 a0007c0003t0009g0260	1	318	0.0031	-28	c.422 others(43): Show c.422-892_422-865delCCCGGCCCGGCCCGGCCCGGCCCGGCCC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA8_chr17_68862289_68960392	68922194	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01099.hp2 HG04204.hp1 others(1): Show HG00280.hp2 HG01099.hp2 HG04204.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0002t0001g0005 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0002t0001g0005 a0001c0002t0001g0034	4	274	0.0146	-28	c.150 others(43): Show c.1501+20_1501+47delAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	12/39			chr17	TogoVar
ABCA8_chr17_68862289_68960392	68958491	AATATAAT others(21): Show AATATAATTATATATAATATATAATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG03516.hp1 others(1): Show HG02055.hp2 HG02451.hp1 HG03516.hp1 NA19043.hp1	a0001 a0008 a0020 a0001 a0008 a0020	a0001c0001 a0008c0040 a0020c0049 a0001c0001 a0008c0040 a0020c0049	a0001c0001t0001 a0008c0040t0001 a0020c0049t0001 a0001c0001t0001 a0008c0040t0001 a0020c0049t0001	a0001c0001t0001g0117 a0001c0001t0001g0119 a0008c0040t0001g0121 others(1): Show a0001c0001t0001g0117 a0001c0001t0001g0119 a0008c0040t0001g0121 a0020c0049t0001g0093	4	274	0.0146	-28	c.-34 others(39): Show c.-3467_-3440delATATATTATATATTATATATAATTATAT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3100		chr17	TogoVar
ABCA9_chr17_68969488_69065927	69022494	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTATG	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0270 a0004c0005t0003g0270	1	312	0.0032	-28	c.228 others(45): Show c.2282-661_2282-634delCATACACACACACACACACACACACACA	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	17/38			chr17	TogoVar
ABCB1_chr7_87498017_87605884	87502566	TTATATAT others(21): Show TTATATATATATAAAATTATATATAATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG04228.hp1 HG03669.hp1 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0015 a0002c0002t0011 a0001c0001t0015 a0002c0002t0011	a0001c0001t0015g0028 a0002c0002t0011g0162 a0001c0001t0015g0028 a0002c0002t0011g0162	2	352	0.0057	-28	c.16 others(39): Show c.1649_*1676delTAATTATATATAATTTTATATATATATA	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding		450		chr7	TogoVar
ABCB5_chr7_20610667_20762008	20681018	CTTTCTTT others(21): Show CTTTCTTTCTTTCTTTCTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0038 a0038	a0038c0049 a0038c0049	a0038c0049t0004 a0038c0049t0004	a0038c0049t0004g0348 a0038c0049t0004g0348	1	360	0.0028	-28	c.170 others(45): Show c.1708-485_1708-458delTTCTTTCTTTCTTTCTCTTTCTTTCTTT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20706624	TCTTTTTC others(21): Show TCTTTTTCATTAGAACTAGTAGCTAGAGA	T T	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0048 a0002c0003t0003g0048	1	360	0.0028	-28	c.242 others(47): Show c.2421+1818_2421+1845delCTTTTTCATTAGAACTAGTAGCTAGA GA	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	20/27			chr7	TogoVar
ABCC1_chr16_15944616_16148053	16003629	TTGGTGGG others(21): Show TTGGTGGGTGGGTGGATGGATGGATGAAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0246 a0001c0001t0008g0246	1	249	0.0040	-28	c.49- others(43): Show c.49-4161_49-4134delAACTGGTGGGTGGGTGGATGGATGGATG	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC2_chr10_99777640_99857594	99814525	ATATATAC others(21): Show ATATATACACATATACACACACATATGTG	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01175.hp2 HG01346.hp1 others(9): Show HG01169.hp1 HG01175.hp2 HG01346.hp1 HG01978.hp2 HG03942.hp2 NA18945.hp2 NA18990.hp2 NA18995.hp1 NA18998.hp1 NA19005.hp2 NA19009.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0001t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0002t0002g0051 others(9): Show a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0002t0002g0051 a0001c0002t0002g0063 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0096 a0001c0002t0002g0102 a0001c0002t0002g0110 a0001c0002t0003g0095 a0001c0002t0003g0124	12	336	0.0357	-28	c.209 others(47): Show c.2094+1458_2094+1485delCATATGTGTATATACACATATACACA CA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814622	TACACACA others(21): Show TACACACATATGTGTATATACACATATAC	T T	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG04204.hp1 HG02273.hp2 HG04204.hp1	a0001 a0012 a0001 a0012	a0001c0002 a0012c0041 a0001c0002 a0012c0041	a0001c0002t0002 a0012c0041t0002 a0001c0002t0002 a0012c0041t0002	a0001c0002t0002g0123 a0012c0041t0002g0071 a0001c0002t0002g0123 a0012c0041t0002g0071	2	336	0.0060	-28	c.209 others(47): Show c.2094+1513_2094+1540delATATGTGTATATACACATATACACAC AC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814769	GTGTGTGT others(21): Show GTGTGTGTATGTATATACACACACACATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp1 HG01169.hp2 others(9): Show HG00639.hp2 HG01167.hp1 HG01169.hp2 HG02055.hp1 HG02451.hp2 HG02486.hp2 HG02818.hp1 HG02886.hp2 HG03139.hp1 HG03195.hp2 HG03486.hp1 HG03579.hp1	a0001 a0004 a0019 others(2): Show a0001 a0004 a0019 a0020 a0026	a0001c0001 a0001c0002 a0001c0014 others(4): Show a0001c0001 a0001c0002 a0001c0014 a0004c0029 a0019c0023 a0020c0024 a0026c0032	a0001c0001t0001 a0001c0002t0003 a0001c0002t0007 others(5): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0007 a0001c0014t0001 a0004c0029t0001 a0019c0023t0001 a0020c0024t0001 a0026c0032t0001	a0001c0001t0001g0012 a0001c0002t0003g0130 a0001c0002t0003g0131 others(9): Show a0001c0001t0001g0012 a0001c0002t0003g0130 a0001c0002t0003g0131 a0001c0002t0003g0224 a0001c0002t0003g0276 a0001c0002t0007g0126 a0001c0002t0007g0129 a0001c0014t0001g0128 a0004c0029t0001g0331 a0019c0023t0001g0219 a0020c0024t0001g0013 a0026c0032t0001g0127	12	336	0.0357	-28	c.209 others(47): Show c.2094+1633_2094+1660delATGTATATACACACACACATATGTGT GT	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC3_chr17_50629881_50697253	50674018	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0003 a0002c0006t0001g0003	1	342	0.0029	-28	c.259 others(45): Show c.2599+364_2599+391delCTCTCTCTCTCTCTCTTTCTTTCTTTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC3_chr17_50629881_50697253	50674030	CTCTCTCT others(21): Show CTCTCTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0020 a0020	a0020c0030 a0020c0030	a0020c0030t0001 a0020c0030t0001	a0020c0030t0001g0337 a0020c0030t0001g0337	1	342	0.0029	-28	c.259 others(45): Show c.2599+376_2599+403delCTCTTTCTTTCTTTCTTTCTTTCTTTCT	ABCC3	ENSG00000108846.16	transcript	ENST00000285238.13	protein_coding	19/30		INFO_REALIGN_3_PRIME	chr17	TogoVar
ABCC4_chr13_95014835_95306451	95025421	TACACACC others(21): Show TACACACCCACATCCCCTGACACCCACAC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0243 a0001c0003t0025g0243	1	248	0.0040	-28	c.387 others(47): Show c.3871-3767_3871-3740delGTGTGGGTGTCAGGGGATGTGGGTGT GT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029205	TATATATA others(21): Show TATATATATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0153 a0002c0004t0001g0153	1	248	0.0040	-28	c.387 others(47): Show c.3870+5372_3870+5399delCTCTCTCTCTCTCTCTCTCTATATAT AT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029211	TATAGAGA others(21): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01261.hp1 HG02970.hp2 others(2): Show HG00558.hp1 HG01261.hp1 HG02970.hp2 NA18983.hp1 NA19056.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0002 a0002c0004 a0002c0005 others(1): Show a0001c0002 a0002c0004 a0002c0005 a0011c0056	a0001c0002t0001 a0002c0004t0001 a0002c0005t0001 others(1): Show a0001c0002t0001 a0002c0004t0001 a0002c0005t0001 a0011c0056t0009	a0001c0002t0001g0110 a0001c0002t0001g0181 a0002c0004t0001g0140 others(2): Show a0001c0002t0001g0110 a0001c0002t0001g0181 a0002c0004t0001g0140 a0002c0005t0001g0102 a0011c0056t0009g0090	5	248	0.0202	-28	c.387 others(47): Show c.3870+5366_3870+5393delCTCTCTCTCTCTCTCTCTCTCTCTCT AT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95029227	GAGAGAGA others(21): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00738.hp2 others(29): Show HG00639.hp1 HG00642.hp1 HG00738.hp2 HG01099.hp2 HG01109.hp1 HG01192.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp2 HG01981.hp2 HG02083.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02258.hp1 HG02559.hp2 HG03710.hp1 HG04115.hp2 HG04199.hp2 NA18959.hp1 NA18979.hp1 NA18979.hp2 NA18985.hp2 NA18994.hp2 NA19011.hp1 NA19011.hp2 NA19060.hp1 NA19065.hp1 NA19079.hp1 NA19088.hp1 NA19091.hp1 NA20752.hp1	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0007 a0008 a0014 a0016	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0014 a0001c0022 a0001c0065 a0003c0008 a0003c0029 a0004c0006 a0005c0019 a0007c0043 a0007c0069 a0008c0032 a0014c0058 a0016c0073	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(16): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0003t0001 a0001c0003t0002 a0001c0010t0007 a0001c0014t0007 a0001c0022t0022 a0001c0065t0007 a0003c0008t0001 a0003c0008t0002 a0003c0029t0001 a0004c0006t0001 a0005c0019t0002 a0007c0043t0009 a0007c0069t0009 a0008c0032t0001 a0014c0058t0001 a0016c0073t0001	a0001c0001t0001g0046 a0001c0001t0001g0063 a0001c0001t0001g0163 others(29): Show a0001c0001t0001g0046 a0001c0001t0001g0063 a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0206 a0001c0002t0001g0188 a0001c0002t0001g0238 a0001c0002t0005g0027 a0001c0003t0001g0155 a0001c0003t0001g0225 a0001c0003t0002g0231 a0001c0010t0007g0143 a0001c0010t0007g0167 a0001c0010t0007g0180 a0001c0014t0007g0170 a0001c0014t0007g0172 a0001c0014t0007g0191 a0001c0022t0022g0161 a0001c0065t0007g0006 a0003c0008t0001g0141 a0003c0008t0002g0207 a0003c0029t0001g0213 a0004c0006t0001g0137 a0004c0006t0001g0176 a0004c0006t0001g0192 a0005c0019t0002g0223 a0007c0043t0009g0097 a0007c0069t0009g0043 a0008c0032t0001g0004 a0014c0058t0001g0218 a0016c0073t0001g0186	32	248	0.1290	-28	c.387 others(47): Show c.3870+5350_3870+5377delTTCTCTCTCTCTCTCTCTCTCTCTCT CT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95054021	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01069.hp1 HG01169.hp2 others(19): Show HG00558.hp1 HG01069.hp1 HG01169.hp2 HG01255.hp1 HG02080.hp2 HG02155.hp1 HG02451.hp1 HG02523.hp1 HG02602.hp1 HG02735.hp2 HG03239.hp2 HG03491.hp2 HG03710.hp1 HG04204.hp2 NA18522.hp2 NA18979.hp2 NA18985.hp2 NA19011.hp1 NA19043.hp2 NA20129.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0008	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0012 a0002c0004 a0003c0008 a0004c0006 a0006c0027 a0006c0038 a0008c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0009t0001 a0001c0012t0001 a0002c0004t0001 a0002c0004t0002 a0003c0008t0001 a0004c0006t0001 a0006c0027t0002 a0006c0038t0002 a0008c0032t0001	a0001c0001t0001g0064 a0001c0001t0001g0084 a0001c0001t0001g0206 others(19): Show a0001c0001t0001g0064 a0001c0001t0001g0084 a0001c0001t0001g0206 a0001c0001t0002g0199 a0001c0001t0005g0044 a0001c0001t0008g0248 a0001c0002t0001g0181 a0001c0002t0001g0188 a0001c0002t0001g0238 a0001c0003t0001g0029 a0001c0003t0002g0096 a0001c0003t0005g0019 a0001c0009t0001g0047 a0001c0012t0001g0081 a0002c0004t0001g0147 a0002c0004t0002g0193 a0003c0008t0001g0099 a0004c0006t0001g0192 a0006c0027t0002g0151 a0006c0027t0002g0194 a0006c0038t0002g0145 a0008c0032t0001g0004	22	248	0.0887	-28	c.336 others(45): Show c.3367-865_3367-838delAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	26/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95196580	AGGAGGAA others(21): Show AGGAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0096 a0001c0003t0002g0096	1	248	0.0040	-28	c.116 others(47): Show c.1162-1671_1162-1644delCTTCCTTCCTTCCTTCCTTCCTTCCT CC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	8/30			chr13	TogoVar
ABCC9_chr12_21792389_21946426	21816036	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03486.hp1 HG02965.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0002t0023 a0001c0001t0019 a0001c0002t0023	a0001c0001t0019g0196 a0001c0002t0023g0182 a0001c0001t0019g0196 a0001c0002t0023g0182	2	212	0.0094	-28	c.389 others(45): Show c.3893-171_3893-144delAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	33/39			chr12	TogoVar
ABCD3_chr1_94413389_94523663	94438282	TCACACAC others(21): Show TCACACACACACACACACATACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0018 a0001c0001t0019g0018	1	362	0.0028	-28	c.110 others(47): Show c.110+19713_110+19740delTACACACACACACACACACACACACA CA	ABCD3	ENSG00000117528.14	transcript	ENST00000370214.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
ABHD12_chr20_25295214_25395835	25350959	TCACACAC others(21): Show TCACACACACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG02280.hp2 others(6): Show HG01109.hp2 HG02055.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02717.hp2 HG02976.hp2 HG03209.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0309 a0001c0001t0005g0310 others(5): Show a0001c0001t0005g0001 a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0311 a0001c0001t0005g0312 a0001c0001t0005g0313 a0001c0001t0005g0314 a0001c0001t0005g0315	9	316	0.0285	-28	c.192 others(47): Show c.192-11636_192-11609delTGTGTGTGTGTGTGTGTGTGTGTGTG TG	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	1/12			chr20	TogoVar
ABHD18_chr4_127960406_128044953	128039144	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp2 HG02280.hp1 HG02451.hp2 others(3): Show HG01168.hp2 HG02280.hp1 HG02451.hp2 HG02965.hp2 HG02970.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0043 a0001c0001t0089 a0001c0001t0027 a0001c0001t0043 a0001c0001t0089	a0001c0001t0027g0058 a0001c0001t0027g0253 a0001c0001t0027g0255 others(3): Show a0001c0001t0027g0058 a0001c0001t0027g0253 a0001c0001t0027g0255 a0001c0001t0043g0202 a0001c0001t0043g0259 a0001c0001t0089g0260	6	344	0.0174	-28	c.33 others(39): Show c.3345_*3372delTATATATATATATATATATATATATATA	ABHD18	ENSG00000164074.17	transcript	ENST00000645843.2	protein_coding	13/13	3345	INFO_REALIGN_3_PRIME	chr4	TogoVar
ABHD2_chr15_89083456_89207355	89115367	GGTATGTG others(21): Show GGTATGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02602.hp2 HG02896.hp2 others(1): Show HG01517.hp1 HG02602.hp2 HG02896.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0007t0007	a0001c0001t0001g0060 a0001c0001t0003g0061 a0001c0001t0010g0012 others(1): Show a0001c0001t0001g0060 a0001c0001t0003g0061 a0001c0001t0010g0012 a0001c0007t0007g0225	4	234	0.0171	-28	c.-6- others(41): Show c.-6-952_-6-925delATGTGTGTGTGTGTGTGTGTGTGTGTGT	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABHD8_chr19_17287131_17308425	17299809	GAGATAAG others(21): Show GAGATAAGGTTTTGCCATGTTGTCCAAAC	G G	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0223 a0004c0009t0001g0223	1	386	0.0026	-28	c.761 others(45): Show c.761+1019_761+1046delGTTTGGACAACATGGCAAAACCTTATCT	ABHD8	ENSG00000127220.6	transcript	ENST00000247706.4	protein_coding	2/4			chr19	TogoVar
ABI1_chr10_26741596_26865958	26843467	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0084 a0001c0001t0004g0084	1	358	0.0028	-28	c.117 others(47): Show c.117+17252_117+17279delATATATATATTTTTTTTTTTTTTTTT TT	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	1/10			chr10	TogoVar
ABI2_chr2_203323394_203437169	203338920	GTGTGTGT others(21): Show GTGTGTGTGTATATGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0111 a0001c0001t0005g0111	1	320	0.0031	-28	c.117 others(47): Show c.117+10291_117+10318delGTGTGTGTATATGTATATATATATAT AT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203338922	GTGTGTGT others(21): Show GTGTGTGTATATGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0176 a0001c0001t0005g0176	1	320	0.0031	-28	c.117 others(47): Show c.117+10293_117+10320delGTGTGTATATGTATATATATATATAT AT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203338926	GTGTATAT others(21): Show GTGTATATGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01952.hp1 HG02148.hp1 others(1): Show HG01928.hp1 HG01952.hp1 HG02148.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0192 a0001c0001t0003g0222 a0001c0001t0003g0309 others(1): Show a0001c0001t0003g0192 a0001c0001t0003g0222 a0001c0001t0003g0309 a0001c0001t0003g0310	4	320	0.0125	-28	c.117 others(47): Show c.117+10297_117+10324delGTATATGTATATATATATATATATAT AT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203338955	TATATATA others(21): Show TATATATAAATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02280.hp1 HG01175.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0021 a0001c0001t0003g0080 a0001c0001t0002g0021 a0001c0001t0003g0080	2	320	0.0063	-28	c.117 others(47): Show c.117+10332_117+10359delAATATATATATATATATATAAATATA TA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABL1_chr9_130830254_130892675	130875987	CCGGCTAA others(21): Show CCGGCTAATTTTTGTATTTTTAGTAGAGA	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	278	0.0036	-28	c.127 others(45): Show c.1270+939_1270+966delCTAATTTTTGTATTTTTAGTAGAGACGG	ABL1	ENSG00000097007.20	transcript	ENST00000318560.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
ABLIM1_chr10_114426112_114663275	114583404	AACACACA others(21): Show AACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0053 a0001c0003t0017g0053	1	256	0.0039	-28	c.380 others(45): Show c.380-7833_380-7806delGTGTGTGTGTGTGTGTGTGTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583452	CACACACA others(21): Show CACACACACACACACACATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0120 a0001c0002t0038g0120	1	256	0.0039	-28	c.380 others(45): Show c.380-7881_380-7854delATATATATATATGTGTGTGTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583454	CACACACA others(21): Show CACACACACACACACATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0068 a0001c0003t0068	a0001c0003t0068g0224 a0001c0003t0068g0224	1	256	0.0039	-28	c.380 others(45): Show c.380-7883_380-7856delATATATATATATATGTGTGTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114583456	CACACACA others(21): Show CACACACACACACATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0071 a0001c0003t0005g0071	1	256	0.0039	-28	c.380 others(45): Show c.380-7885_380-7858delATATATATATATATATGTGTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABLIM2_chr4_7960327_8163813	8028702	TTCACTCA others(21): Show TTCACTCACTAATTCAGTCATTCATGCAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03130.hp2 HG03195.hp2 others(1): Show HG02145.hp1 HG03130.hp2 HG03195.hp2 HG03486.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0006 a0001c0001 a0001c0003 a0005c0006	a0001c0001t0004 a0001c0003t0006 a0001c0003t0009 others(1): Show a0001c0001t0004 a0001c0003t0006 a0001c0003t0009 a0005c0006t0006	a0001c0001t0004g0128 a0001c0003t0006g0209 a0001c0003t0009g0221 others(1): Show a0001c0001t0004g0128 a0001c0003t0006g0209 a0001c0003t0009g0221 a0005c0006t0006g0205	4	322	0.0124	-28	c.116 others(45): Show c.1169-873_1169-846delGTGCATGAATGACTGAATTAGTGAGTGA	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	11/20			chr4	TogoVar
ABLIM3_chr5_149136493_149265542	149208368	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCAATTTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp1 HG02896.hp2 others(3): Show HG01243.hp2 HG02559.hp1 HG02896.hp2 HG02897.hp1 NA18522.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0005 a0001c0001t0002 a0001c0002t0005	a0001c0001t0002g0100 a0001c0002t0005g0075 a0001c0002t0005g0114 others(3): Show a0001c0001t0002g0100 a0001c0002t0005g0075 a0001c0002t0005g0114 a0001c0002t0005g0215 a0001c0002t0005g0216 a0001c0002t0005g0217	6	258	0.0233	-28	c.575 others(45): Show c.575+1246_575+1273delCTCTCTCAATTTCTCTTTCTCTCTCTCT	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABLIM3_chr5_149136493_149265542	149225972	GTGTGTGT others(21): Show GTGTGTGTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0034 a0001c0001t0006g0034	1	258	0.0039	-28	c.758 others(45): Show c.758-4675_758-4648delGTGTGTGTGTATATATATATATATATAT	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABLIM3_chr5_149136493_149265542	149225976	GTGTGTGT others(21): Show GTGTGTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0111 a0001c0001t0012g0111	1	258	0.0039	-28	c.758 others(45): Show c.758-4671_758-4644delGTGTGTATATATATATATATATATATAT	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
ABR_chr17_998519_1184981	1057308	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02896.hp2 HG02897.hp2 others(3): Show HG02622.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 NA19090.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0013 a0001c0002t0012 others(3): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0012 a0001c0002t0038 a0001c0003t0016 a0001c0003t0080	a0001c0001t0001g0202 a0001c0001t0013g0028 a0001c0002t0012g0244 others(3): Show a0001c0001t0001g0202 a0001c0001t0013g0028 a0001c0002t0012g0244 a0001c0002t0038g0013 a0001c0003t0016g0229 a0001c0003t0080g0287	6	337	0.0178	-28	c.138 others(45): Show c.1382-234_1382-207delCACACACACACACACACACACACACACA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	12/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118306	TTCTCCCC others(21): Show TTCTCCCCAGCGTTATCCCTGAGCCTGAG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0168 a0001c0001t0003g0168	1	337	0.0030	-28	c.246 others(45): Show c.246+6849_246+6876delCTCAGGCTCAGGGATAACGCTGGGGAGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1119088	CCCAGCGT others(21): Show CCCAGCGTTATCCCTGAGCCTGAGTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00544.hp2 others(48): Show HG00280.hp2 HG00323.hp1 HG00544.hp2 HG00673.hp2 HG00733.hp2 HG01099.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG02040.hp1 HG02145.hp2 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp2 HG02630.hp1 HG02698.hp2 HG02818.hp1 HG02970.hp1 HG02970.hp2 HG03195.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG03927.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp2 NA19007.hp2 NA19081.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0044 a0001c0001t0069 a0001c0001t0071 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0056 a0001c0002t0085 a0001c0003t0023 a0001c0003t0024 a0001c0003t0025	a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0173 others(48): Show a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0173 a0001c0001t0001g0191 a0001c0001t0002g0081 a0001c0001t0002g0131 a0001c0001t0002g0179 a0001c0001t0002g0209 a0001c0001t0002g0223 a0001c0001t0003g0092 a0001c0001t0003g0130 a0001c0001t0003g0192 a0001c0001t0004g0256 a0001c0001t0004g0268 a0001c0001t0004g0313 a0001c0001t0004g0332 a0001c0001t0005g0278 a0001c0001t0005g0296 a0001c0001t0005g0318 a0001c0001t0005g0320 a0001c0001t0006g0075 a0001c0001t0006g0086 a0001c0001t0006g0096 a0001c0001t0006g0208 a0001c0001t0006g0216 a0001c0001t0007g0249 a0001c0001t0007g0326 a0001c0001t0008g0007 a0001c0001t0008g0012 a0001c0001t0008g0033 a0001c0001t0009g0004 a0001c0001t0010g0310 a0001c0001t0013g0028 a0001c0001t0014g0103 a0001c0001t0020g0136 a0001c0001t0028g0123 a0001c0001t0029g0177 a0001c0001t0030g0210 a0001c0001t0044g0021 a0001c0001t0069g0153 a0001c0001t0071g0185 a0001c0002t0001g0164 a0001c0002t0001g0205 a0001c0002t0002g0066 a0001c0002t0005g0305 a0001c0002t0056g0155 a0001c0002t0085g0328 a0001c0003t0023g0005 a0001c0003t0024g0040 a0001c0003t0025g0006 a0001c0003t0025g0009	51	337	0.1513	-28	c.246 others(45): Show c.246+6067_246+6094delAGGAACTCAGGCTCAGGGATAACGCTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar

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