Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
DYSF_chr2_71448561_71691763	71534005	AAATCCTG others(6): Show AAATCCTGGCACTC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02615.hp2 others(8): Show HG02258.hp1 HG02280.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG03041.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 NA18906.hp1 NA20300.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0018	a0001c0007 a0001c0018 a0001c0019 others(5): Show a0001c0007 a0001c0018 a0001c0019 a0001c0031 a0001c0073 a0003c0062 a0005c0060 a0018c0059	a0001c0007t0001 a0001c0007t0002 a0001c0018t0001 others(6): Show a0001c0007t0001 a0001c0007t0002 a0001c0018t0001 a0001c0019t0001 a0001c0031t0001 a0001c0073t0001 a0003c0062t0001 a0005c0060t0002 a0018c0059t0001	a0001c0007t0001g0063 a0001c0007t0002g0014 a0001c0007t0002g0016 others(8): Show a0001c0007t0001g0063 a0001c0007t0002g0014 a0001c0007t0002g0016 a0001c0007t0002g0142 a0001c0018t0001g0004 a0001c0019t0001g0044 a0001c0031t0001g0186 a0001c0073t0001g0005 a0003c0062t0001g0102 a0005c0060t0002g0143 a0018c0059t0001g0093	11	192	0.0573	-13	c.128 others(32): Show c.1285-1014_1285-1002delATCCTGGCACTCA	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	13/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71534005	AAATCCTG others(6): Show AAATCCTGGCACTC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02615.hp2 others(9): Show HG02258.hp2 HG02280.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG03041.hp2 HG03130.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 NA18906.hp2 NA20300.hp2	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0020 a0027	a0001c0007 a0001c0019 a0001c0032 others(6): Show a0001c0007 a0001c0019 a0001c0032 a0001c0060 a0001c0078 a0003c0065 a0006c0063 a0020c0062 a0027c0059	a0001c0007t0001 a0001c0007t0002 a0001c0007t0004 others(8): Show a0001c0007t0001 a0001c0007t0002 a0001c0007t0004 a0001c0019t0002 a0001c0032t0002 a0001c0060t0001 a0001c0078t0001 a0003c0065t0001 a0006c0063t0001 a0020c0062t0001 a0027c0059t0005	a0001c0007t0001g0139 a0001c0007t0002g0148 a0001c0007t0004g0020 others(9): Show a0001c0007t0001g0139 a0001c0007t0002g0148 a0001c0007t0004g0020 a0001c0007t0004g0022 a0001c0019t0002g0187 a0001c0032t0002g0193 a0001c0060t0001g0197 a0001c0078t0001g0199 a0003c0065t0001g0110 a0006c0063t0001g0140 a0020c0062t0001g0045 a0027c0059t0005g0117	12	208	0.0577	-13	c.138 others(32): Show c.1381-1014_1381-1002delATCCTGGCACTCA	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	14/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYTN_chr2_206646621_206723396	206702723	ACATAGGA others(6): Show ACATAGGATGACTC	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02922.hp1 others(1): Show HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0343 a0002c0002t0001g0340 a0002c0002t0001g0341 others(1): Show a0001c0001t0001g0343 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0342	4	382	0.0105	-13	c.483 others(30): Show c.483+2107_483+2119delGAGTCATCCTATG	DYTN	ENSG00000232125.5	transcript	ENST00000452335.2	protein_coding	5/11			chr2	TogoVar
DZANK1_chr20_18378367_18472030	18438234	AAAAAAGA others(6): Show AAAAAAGAAATAAC	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0229 a0001c0007t0002g0229	1	374	0.0027	-13	c.805 others(30): Show c.805-4482_805-4470delGTTATTTCTTTTT	DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	8/20			chr20	TogoVar
DZANK1_chr20_18378367_18472030	18438236	AAAAGAAA others(6): Show AAAAGAAATAACAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00642.hp1 others(69): Show HG00140.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01192.hp1 HG01358.hp1 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01952.hp2 HG01981.hp1 HG02074.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02896.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18943.hp2 NA18949.hp1 NA18954.hp2 NA18959.hp1 NA18963.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19012.hp1 NA19030.hp1 NA19064.hp1 NA19076.hp1 NA19079.hp1 NA19080.hp2 NA19091.hp2 NA19240.hp1 NA20905.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0009 a0011	a0001c0001 a0001c0007 a0003c0016 others(3): Show a0001c0001 a0001c0007 a0003c0016 a0004c0027 a0009c0019 a0011c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0007t0002 a0001c0007t0003 a0003c0016t0002 a0004c0027t0008 a0009c0019t0002 a0011c0021t0002	a0001c0001t0001g0333 a0001c0001t0002g0026 a0001c0001t0002g0046 others(67): Show a0001c0001t0001g0333 a0001c0001t0002g0026 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0261 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0011g0275 a0001c0007t0002g0011 a0001c0007t0002g0139 a0001c0007t0002g0140 a0001c0007t0002g0228 a0001c0007t0003g0342 a0003c0016t0002g0206 a0003c0016t0002g0271 a0004c0027t0008g0235 a0009c0019t0002g0304 a0009c0019t0002g0329 a0011c0021t0002g0182	72	374	0.1925	-13	c.805 others(30): Show c.805-4484_805-4472delGTGTTATTTCTTT	DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	8/20			chr20	TogoVar
DZIP1_chr13_95573202_95649706	95648015	GCCATTAG others(6): Show GCCATTAGAACCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG00642.hp1 others(33): Show HG00438.hp2 HG00621.hp2 HG00642.hp1 HG01074.hp2 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01433.hp1 HG01496.hp2 HG01928.hp2 HG01934.hp1 HG01993.hp2 HG02040.hp1 HG02257.hp1 HG02486.hp2 HG02523.hp1 HG02615.hp1 HG02735.hp1 HG02809.hp1 HG02895.hp2 HG02970.hp1 HG03209.hp2 HG03239.hp2 HG03927.hp1 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18987.hp2 NA18994.hp1 NA18999.hp2 NA19007.hp1 NA19054.hp2 NA19055.hp1 NA19065.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0002c0002t0003 a0002c0002t0019	a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 others(32): Show a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0003g0007 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0313 a0001c0001t0007g0302 a0001c0001t0007g0309 a0001c0001t0007g0310 a0001c0001t0007g0317 a0001c0001t0007g0318 a0001c0001t0007g0319 a0002c0002t0003g0311 a0002c0002t0003g0312 a0002c0002t0003g0314 a0002c0002t0003g0315 a0002c0002t0003g0316 a0002c0002t0019g0292 a0002c0002t0019g0293	36	382	0.0942	-13	c.-41 others(24): Show c.-4177_-4165delGAGGTTCTAATGG	DZIP1	ENSG00000134874.18	transcript	ENST00000376829.7	protein_coding		3310		chr13	TogoVar
E2F3_chr6_20396879_20498714	20462859	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02809.hp2 HG03209.hp1 others(1): Show HG02257.hp2 HG02809.hp2 HG03209.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0081 a0001c0001t0001g0119 a0001c0001t0001g0308 others(1): Show a0001c0001t0001g0081 a0001c0001t0001g0119 a0001c0001t0001g0308 a0001c0001t0020g0307	4	336	0.0119	-13	c.394 others(32): Show c.394-16962_394-16950delTTTTTTTTTTTTT	E2F3	ENSG00000112242.16	transcript	ENST00000346618.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
E2F5_chr8_85172154_85219518	85186630	TGGTATAT others(6): Show TGGTATATATGTAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02647.hp1 HG03041.hp2 others(1): Show HG02486.hp1 HG02647.hp1 HG03041.hp2 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 others(1): Show a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192	4	336	0.0119	-13	c.234 others(30): Show c.234+8987_234+8999delTAAGGTATATATG	E2F5	ENSG00000133740.11	transcript	ENST00000416274.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
E2F6_chr2_11439375_11471161	11465178	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	366	0.0027	-13	c.108 others(28): Show c.108+581_108+593delTTTTTTTTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding	1/6			chr2	TogoVar
E2F7_chr12_77016251_77070569	77016808	GTCTTGCA others(6): Show GTCTTGCATTACTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0275 a0001c0001t0002g0275	1	394	0.0025	-13	c.71 others(24): Show c.7194_*7206delTAGTAATGCAAGA	E2F7	ENSG00000165891.16	transcript	ENST00000322886.12	protein_coding		4442		chr12	TogoVar
E4F1_chr16_2218591_2240742	2219318	TTTTTTTA others(6): Show TTTTTTTATTTTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(172): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19012.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0002 a0001c0011 others(5): Show a0001c0001 a0001c0002 a0001c0011 a0001c0014 a0001c0018 a0001c0021 a0003c0007 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0011t0001 a0001c0014t0001 a0001c0018t0001 a0001c0021t0001 a0003c0007t0001 a0008c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(58): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0002g0023 a0001c0002t0001g0001 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0003g0001 a0001c0011t0001g0002 a0001c0014t0001g0001 a0001c0018t0001g0011 a0001c0021t0001g0001 a0003c0007t0001g0001 a0003c0007t0001g0010 a0008c0012t0001g0059	175	392	0.4464	-13	c.-42 others(24): Show c.-4295_-4283delTTTTTTATTTTTA	E4F1	ENSG00000167967.16	transcript	ENST00000301727.9	protein_coding		4272		chr16	TogoVar
EAF2_chr3_121830209_121891526	121841504	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	318	0.0031	-13	c.107 others(30): Show c.107-2922_107-2910delAAAAAAAAAAAAA	EAF2	ENSG00000145088.9	transcript	ENST00000273668.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
EAF2_chr3_121830209_121891526	121841531	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01256.hp1 HG01884.hp2 others(23): Show HG00423.hp1 HG01256.hp1 HG01884.hp2 HG02145.hp1 HG02258.hp1 HG02451.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp2 HG03579.hp2 HG03704.hp2 NA18612.hp1 NA18971.hp1 NA18975.hp2 NA18992.hp2 NA18998.hp1 NA19005.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 others(20): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0003g0068	26	318	0.0818	-13	c.107 others(30): Show c.107-2918_107-2906delAAAAAAAAAGAAA	EAF2	ENSG00000145088.9	transcript	ENST00000273668.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
EBF1_chr5_158690920_159104916	158840660	TTTTTTTT others(6): Show TTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG00741.hp1 others(14): Show HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01109.hp1 HG01928.hp2 HG01934.hp2 HG02015.hp1 HG02055.hp1 HG02129.hp1 HG02293.hp1 HG02622.hp1 HG02970.hp2 HG02976.hp1 HG03490.hp1 NA18944.hp2 NA18949.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0013 a0001c0002t0041 a0001c0002t0059 a0001c0002t0060 a0001c0002t0083 a0001c0004t0004	a0001c0001t0001g0142 a0001c0001t0007g0066 a0001c0002t0001g0131 others(14): Show a0001c0001t0001g0142 a0001c0001t0007g0066 a0001c0002t0001g0131 a0001c0002t0001g0137 a0001c0002t0001g0158 a0001c0002t0001g0170 a0001c0002t0005g0115 a0001c0002t0006g0017 a0001c0002t0006g0020 a0001c0002t0007g0059 a0001c0002t0007g0083 a0001c0002t0013g0002 a0001c0002t0041g0028 a0001c0002t0059g0052 a0001c0002t0060g0053 a0001c0002t0083g0118 a0001c0004t0004g0171	17	196	0.0867	-13	c.555 others(28): Show c.555-563_555-551delCAAAAAAAAAAAA	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	158866882	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0011 a0001c0001t0012g0011	1	196	0.0051	-13	c.555 others(32): Show c.555-26785_555-26773delTATATATATATAT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	158872996	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0031 a0001c0001t0045g0031	1	196	0.0051	-13	c.555 others(32): Show c.555-32899_555-32887delAAAAAAAAAAAAA	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	158909956	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03139.hp2 HG03579.hp1 HG02922.hp1 HG03139.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0025 a0002c0003t0080 a0001c0001t0025 a0002c0003t0080	a0001c0001t0025g0177 a0001c0001t0025g0178 a0002c0003t0080g0179 a0001c0001t0025g0177 a0001c0001t0025g0178 a0002c0003t0080g0179	3	196	0.0153	-13	c.555 others(32): Show c.555-69859_555-69847delTTTTTTTTTTTTT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	159094165	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01361.hp1 HG01168.hp2 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0036 a0001c0001t0012 a0001c0002t0036	a0001c0001t0012g0011 a0001c0002t0036g0012 a0001c0001t0012g0011 a0001c0002t0036g0012	2	196	0.0102	-13	c.411 others(30): Show c.411+1442_411+1454delTTTTTTTTTTTTT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	4/15			chr5	TogoVar
EBF3_chr10_129830233_129969274	129886033	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18522.hp1 NA18962.hp1 HG00738.hp1 NA18522.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0044 a0001c0001t0004 a0001c0001t0006 a0001c0001t0044	a0001c0001t0004g0274 a0001c0001t0006g0121 a0001c0001t0044g0235 a0001c0001t0004g0274 a0001c0001t0006g0121 a0001c0001t0044g0235	3	338	0.0089	-13	c.555 others(30): Show c.555-8197_555-8185delAAAAAAAAAAAAA	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBF3_chr10_129830233_129969274	129926546	ACAGGGAA others(6): Show ACAGGGAAGCATCT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0102 a0001c0001t0016g0102	1	338	0.0030	-13	c.554 others(32): Show c.554+30699_554+30711delAGATGCTTCCCTG	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBF3_chr10_129830233_129969274	129948259	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02135.hp1 HG02886.hp1 others(1): Show HG01433.hp2 HG02135.hp1 HG02886.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0054 a0001c0001t0055 a0001c0001t0026 a0001c0001t0054 a0001c0001t0055	a0001c0001t0026g0336 a0001c0001t0026g0337 a0001c0001t0054g0335 others(1): Show a0001c0001t0026g0336 a0001c0001t0026g0337 a0001c0001t0054g0335 a0001c0001t0055g0334	4	338	0.0118	-13	c.554 others(30): Show c.554+8986_554+8998delTTTTTTTTTTTTT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBF3_chr10_129830233_129969274	129959740	CGGGAGGC others(6): Show CGGGAGGCCCAGGA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	338	0.0030	-13	c.412 others(28): Show c.412-746_412-734delTCCTGGGCCTCCC	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	4/16			chr10	TogoVar
EBF4_chr20_2687780_2765108	2693627	TCACTCAC others(6): Show TCACTCACCGCGCG	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0189 a0001c0002t0017g0189	1	388	0.0026	-13	c.-17 others(19): Show c.-17_-5delACTCACCGCGCGC	EBF4	ENSG00000088881.22	transcript	ENST00000609451.6	protein_coding	1/17	5	INFO_REALIGN_3_PRIME	chr20	TogoVar
ECD_chr10_73128668_73173008	73153725	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	272	0.0037	-13	c.783 others(28): Show c.783+518_783+530delTTTTTTTTTTTTT	ECD	ENSG00000122882.11	transcript	ENST00000372979.9	protein_coding	6/13			chr10	TogoVar
ECE1_chr1_21212250_21295463	21286915	CAAAAAAA others(6): Show CAAAAAAAAGAAAA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0264 a0001c0002t0010g0264	1	304	0.0033	-13	c.138 others(30): Show c.138+3142_138+3154delTTTTCTTTTTTTT	ECE1	ENSG00000117298.16	transcript	ENST00000374893.11	protein_coding	2/18			chr1	TogoVar
ECE2_chr3_184271022_184298031	184273136	AGCCAGGC others(6): Show AGCCAGGCGCAGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02129.hp2 HG02015.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0057 a0001c0001t0002g0030 a0001c0001t0002g0057	2	398	0.0050	-13	c.-30 others(24): Show c.-3017_-3005delGCCAGGCGCAGTG	ECE2	ENSG00000145194.19	transcript	ENST00000404464.8	protein_coding		2885		chr3	TogoVar
ECE2_chr3_184271022_184298031	184296561	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00741.hp1 HG01070.hp2 others(20): Show HG00280.hp2 HG00741.hp1 HG01070.hp2 HG01123.hp1 HG01496.hp1 HG02132.hp2 HG02148.hp1 HG02698.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03710.hp1 NA18946.hp2 NA18975.hp1 NA18977.hp2 NA18982.hp2 NA18997.hp1 NA18999.hp2 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19065.hp1 NA19078.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0005c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0031 others(13): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0048 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0007g0003 a0005c0009t0001g0095	23	398	0.0578	-13	c.43 others(24): Show c.4324_*4336delAAAAAAAAAAAAA	ECE2	ENSG00000145194.19	transcript	ENST00000404464.8	protein_coding		3531		chr3	TogoVar
ECH1_chr19_38810422_38836794	38832452	TCAGAAGG others(6): Show TCAGAAGGGCTAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(135): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02895.hp2 HG03225.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18940.hp1 NA18942.hp2 NA18948.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA19003.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19062.hp1 NA19063.hp1 NA19067.hp1 NA19070.hp2 NA19077.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19087.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0002 a0005c0007 a0006c0015 a0002c0002 a0005c0007 a0006c0015	a0002c0002t0001 a0002c0002t0002 a0005c0007t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0005c0007t0001 a0006c0015t0001	a0002c0002t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0009 others(83): Show a0002c0002t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0013 a0002c0002t0001g0018 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0255 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0005c0007t0001g0202 a0005c0007t0001g0203 a0005c0007t0001g0254 a0006c0015t0001g0206	138	420	0.3286	-13	c.-69 others(22): Show c.-693_-681delTTTAGCCCTTCTG	ECH1	ENSG00000104823.9	transcript	ENST00000221418.9	protein_coding		659		chr19	TogoVar
ECHDC1_chr6_127283712_127348609	127309479	AAACACAC others(6): Show AAACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	358	0.0028	-13	c.497 others(30): Show c.497+5324_497+5336delGTGTGTGTGTGTT	ECHDC1	ENSG00000093144.19	transcript	ENST00000454859.8	protein_coding	5/5			chr6	TogoVar
ECHDC2_chr1_52890910_52926740	52909972	ATTACAAT others(6): Show ATTACAATAGAATG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp2 others(43): Show HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG02083.hp2 HG02155.hp2 HG04204.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18954.hp1 NA18956.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18992.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19056.hp2 NA19058.hp1 NA19064.hp2 NA19065.hp2 NA19075.hp2 NA19079.hp1 NA19082.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0014 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0150	46	314	0.1465	-13	c.277 others(30): Show c.277+1581_277+1593delCATTCTATTGTAA	ECHDC2	ENSG00000121310.17	transcript	ENST00000371522.9	protein_coding	3/9			chr1	TogoVar
ECHDC2_chr1_52890910_52926740	52910352	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG04204.hp1 NA18940.hp2 others(6): Show HG01978.hp1 HG04204.hp1 NA18940.hp2 NA18956.hp1 NA18969.hp1 NA18998.hp1 NA19009.hp1 NA19082.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0125 others(3): Show a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0140	9	314	0.0287	-13	c.277 others(30): Show c.277+1201_277+1213delAAAAAAAAAAAAA	ECHDC2	ENSG00000121310.17	transcript	ENST00000371522.9	protein_coding	3/9			chr1	TogoVar
ECHDC3_chr10_11737382_11769070	11749773	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01071.hp2 HG02293.hp2 others(7): Show HG00642.hp2 HG01071.hp2 HG02293.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG04199.hp1 HG04228.hp2 NA18906.hp2 NA20129.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0009	a0001c0005 a0003c0004 a0006c0011 others(1): Show a0001c0005 a0003c0004 a0006c0011 a0009c0017	a0001c0005t0001 a0003c0004t0001 a0006c0011t0001 others(1): Show a0001c0005t0001 a0003c0004t0001 a0006c0011t0001 a0009c0017t0001	a0001c0005t0001g0022 a0001c0005t0001g0029 a0003c0004t0001g0111 others(4): Show a0001c0005t0001g0022 a0001c0005t0001g0029 a0003c0004t0001g0111 a0003c0004t0001g0112 a0003c0004t0001g0113 a0006c0011t0001g0224 a0009c0017t0001g0029	10	420	0.0238	-13	c.390 others(28): Show c.390+209_390+221delTTTTTTTTTTTTT	ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
ECM2_chr9_92490315_92540990	92525209	TCAGGAGG others(6): Show TCAGGAGGCTGAGG	T T	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18951.hp2 NA18957.hp2 others(10): Show NA18940.hp1 NA18951.hp2 NA18957.hp2 NA18962.hp1 NA18970.hp2 NA18994.hp2 NA19000.hp2 NA19003.hp1 NA19007.hp1 NA19011.hp1 NA19055.hp1 NA19058.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0137 a0001c0002t0002g0138 others(10): Show a0001c0002t0002g0129 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0152	13	400	0.0325	-13	c.-27 others(30): Show c.-27-2329_-27-2317delCCTCAGCCTCCTG	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533317	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01257.hp2 HG02922.hp1 others(2): Show HG00323.hp2 HG01257.hp2 HG02922.hp1 HG06807.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0116 a0001c0002t0002g0117 others(1): Show a0001c0002t0002g0013 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118	5	400	0.0125	-13	c.-28 others(30): Show c.-28+2603_-28+2615delATTTTTTTTTTTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533319	AAAAAAAA others(6): Show AAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01516.hp2 HG00733.hp1 HG01516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0119 a0001c0002t0002g0120	2	400	0.0050	-13	c.-28 others(30): Show c.-28+2601_-28+2613delATATTTTTTTTTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111358374	TTAAAAAA others(6): Show TTAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0038 a0002c0002t0001g0038	1	354	0.0028	-13	c.36 others(24): Show c.3643_*3655delTTTTTTTTTTTTA	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding		2310		chr9	TogoVar
ECPAS_chr9_111355685_111489383	111391887	TACGATTC others(6): Show TACGATTCATTTAC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	354	0.0028	-13	c.309 others(28): Show c.3093-76_3093-64delGTAAATGAATCGT	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	28/49			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111407403	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19000.hp1 HG02809.hp2 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0215 a0002c0002t0001g0239 a0001c0001t0001g0215 a0002c0002t0001g0239	2	354	0.0057	-13	c.265 others(32): Show c.2652+1155_2652+1167delTTTTTTTTTTTTT	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	24/49			chr9	TogoVar
ECRG4_chr2_106060688_106083155	106071340	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	434	0.0023	-13	c.80- others(26): Show c.80-500_80-488delAAAAAAAAAGAAA	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECSCR_chr5_139443560_139467743	139458500	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18612.hp1 NA19030.hp1 others(4): Show HG02965.hp1 NA18612.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19060.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0052 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0111	7	369	0.0190	-13	c.62- others(26): Show c.62-330_62-318delTTTTTTTTTTTTT	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding	1/9			chr5	TogoVar
ECT2L_chr6_138791087_138909070	138847354	ACTTTTTT others(6): Show ACTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	326	0.0031	-13	c.903 others(28): Show c.903+678_903+690delCTTTTTTTTTTTT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	8/21			chr6	TogoVar
ECT2L_chr6_138791087_138909070	138890492	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0121 a0001c0009t0004g0121	1	326	0.0031	-13	c.241 others(32): Show c.2414+1477_2414+1489delTTTTTTTTTTTTT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2_chr3_172745726_172826474	172747067	TTTCTTCT others(6): Show TTTCTTCTATTTCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG02486.hp2 HG02572.hp2 others(19): Show HG01255.hp1 HG02486.hp2 HG02572.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 NA18906.hp1 NA19030.hp2 NA20129.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0004c0005 a0001c0001 a0001c0006 a0004c0005	a0001c0001t0004 a0001c0006t0004 a0004c0005t0004 a0001c0001t0004 a0001c0006t0004 a0004c0005t0004	a0001c0001t0004g0030 a0001c0001t0004g0244 a0001c0001t0004g0245 others(18): Show a0001c0001t0004g0030 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0006t0004g0251 a0004c0005t0004g0256 a0004c0005t0004g0257	22	318	0.0692	-13	c.-38 others(24): Show c.-3812_-3800delTTCTTCTATTTCA	ECT2	ENSG00000114346.14	transcript	ENST00000392692.8	protein_coding		3658		chr3	TogoVar
EDARADD_chr1_236389286_236489930	236393391	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	294	0.0034	-13	c.-10 others(24): Show c.-1053_-1041delTTTTTTTTTTTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding		894		chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405724	TTTTTCTT others(6): Show TTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0128	1	294	0.0034	-13	c.62- others(28): Show c.62-3488_62-3476delTCTTTCTTTCTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405777	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp2 HG01169.hp1 others(9): Show HG00738.hp2 HG01070.hp2 HG01169.hp1 HG01975.hp1 HG01978.hp2 HG02602.hp1 HG02698.hp1 HG03239.hp1 HG03654.hp1 HG03831.hp2 NA18981.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0003t0001 a0001c0003t0004 a0001c0004t0005 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0108 a0001c0001t0001g0198 a0001c0001t0003g0189 others(9): Show a0001c0001t0001g0108 a0001c0001t0001g0198 a0001c0001t0003g0189 a0001c0001t0003g0200 a0001c0001t0009g0107 a0001c0003t0001g0034 a0001c0003t0004g0036 a0001c0004t0005g0044 a0001c0004t0005g0197 a0001c0004t0005g0199 a0002c0002t0001g0223 a0002c0002t0003g0265	12	294	0.0408	-13	c.62- others(28): Show c.62-3431_62-3419delCTTTCTTTTCTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405785	CTTTCTTT others(6): Show CTTTCTTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0293 a0001c0001t0016g0293	1	294	0.0034	-13	c.62- others(28): Show c.62-3429_62-3417delTTCTTTTCTTTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405787	TTCTTTTC others(6): Show TTCTTTTCTTTTTC	T T	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	294	0.0034	-13	c.62- others(28): Show c.62-3427_62-3415delCTTTTCTTTTTCT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236447211	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02896.hp2 HG02897.hp2 HG01981.hp1 HG02896.hp2 HG02897.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0186 a0001c0001t0004g0187 a0002c0002t0001g0288 a0001c0001t0004g0186 a0001c0001t0004g0187 a0002c0002t0001g0288	3	294	0.0102	-13	c.219 others(32): Show c.219+19771_219+19783delTTTCCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDA_chrX_69611113_70044472	69810257	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	226	0.0044	-13	c.397 others(34): Show c.397-146736_397-146724delAAAAAAAAAAAAA	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar

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