Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RC3H2_chr9_122839556_122910359	122868837	ATATGTGT others(13): Show ATATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0014 a0002c0003t0002g0014	1	320	0.0031	-20	c.132 others(39): Show c.1326-3200_1326-3181delCACACACACACACACACATA	RC3H2	ENSG00000056586.16	transcript	ENST00000357244.7	protein_coding	9/20			chr9	TogoVar
RC3H2_chr9_122839556_122910359	122868839	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	320	0.0031	-20	c.132 others(39): Show c.1326-3202_1326-3183delCACACACACACACACACACA	RC3H2	ENSG00000056586.16	transcript	ENST00000357244.7	protein_coding	9/20			chr9	TogoVar
RC3H2_chr9_122839556_122910359	122870377	AAAACAAA others(13): Show AAAACAAACAAACAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG02717.hp1 others(3): Show HG02280.hp1 HG02572.hp2 HG02717.hp1 HG02896.hp1 HG03041.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0188 a0001c0001t0001g0189 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0193	6	320	0.0188	-20	c.132 others(39): Show c.1326-4740_1326-4721delGTTTGTTTGTTTGTTTGTTT	RC3H2	ENSG00000056586.16	transcript	ENST00000357244.7	protein_coding	9/20			chr9	TogoVar
RCAN1_chr21_34511442_34620113	34513603	TATCCATC others(13): Show TATCCATCCATCCATCCATCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02615.hp2 HG02896.hp1 others(1): Show HG02486.hp2 HG02615.hp2 HG02896.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0239 others(1): Show a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0239 a0001c0001t0001g0315	4	378	0.0106	-20	c.44 others(31): Show c.4461_*4480delGGATGGATGGATGGATGGAT	RCAN1	ENSG00000159200.18	transcript	ENST00000313806.9	protein_coding		2838		chr21	TogoVar
RCAN3_chr1_24497836_24546040	24515427	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0210 a0001c0001t0011g0210	1	332	0.0030	-20	c.195 others(35): Show c.195+878_195+897delTGTGTGTGTGTGTGTGTGTG	RCAN3	ENSG00000117602.13	transcript	ENST00000374395.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
RCBTB2_chr13_48483963_48538080	48525373	GATATATA others(13): Show GATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0274 a0001c0001t0002g0049 a0001c0003t0001g0057 a0001c0001t0001g0274 a0001c0001t0002g0049 a0001c0003t0001g0057	3	320	0.0094	-20	c.-21 others(37): Show c.-218-636_-218-617delATATATATATATATATATAT	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14			chr13	TogoVar
RCC1L_chr7_75037183_75078802	75043233	CAGGAGAC others(13): Show CAGGAGACAGCTTGTCTCAGT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	270	0.0037	-20	c.131 others(37): Show c.1318-144_1318-125delACTGAGACAAGCTGTCTCCT	RCC1L	ENSG00000274523.5	transcript	ENST00000610322.5	protein_coding	10/10			chr7	TogoVar
RCC1_chr1_28501043_28543989	28533845	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18939.hp1 NA18957.hp1 others(4): Show HG03831.hp2 NA18939.hp1 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA19043.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0156 others(4): Show a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0156 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0190 a0001c0001t0004g0218	7	294	0.0238	-20	c.442 others(37): Show c.442-1174_442-1155delTTTTTTTTTTTTTTTTTTTT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RCL1_chr9_4787944_4866066	4806587	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	386	0.0026	-20	c.136 others(39): Show c.136+13388_136+13407delCACACACACACACACACACA	RCL1	ENSG00000120158.12	transcript	ENST00000381750.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
RCN2_chr15_76926749_76959393	76953555	CTATATAT others(13): Show CTATATATATATATATATATA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp2 HG01255.hp2 HG03704.hp1 others(9): Show HG00438.hp2 HG01255.hp2 HG03704.hp1 NA18956.hp1 NA18974.hp1 NA18978.hp1 NA18980.hp2 NA18987.hp2 NA18992.hp2 NA18998.hp2 NA19009.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0050 a0001c0001t0151 others(3): Show a0001c0001t0005 a0001c0001t0050 a0001c0001t0151 a0001c0001t0160 a0001c0001t0181 a0001c0001t0184	a0001c0001t0005g0018 a0001c0001t0005g0035 a0001c0001t0005g0062 others(8): Show a0001c0001t0005g0018 a0001c0001t0005g0035 a0001c0001t0005g0062 a0001c0001t0005g0156 a0001c0001t0005g0157 a0001c0001t0005g0164 a0001c0001t0050g0018 a0001c0001t0151g0002 a0001c0001t0160g0002 a0001c0001t0181g0033 a0001c0001t0184g0004	12	422	0.0284	-20	c.43 others(31): Show c.4353_*4372delATATATATATATATATATAT	RCN2	ENSG00000117906.14	transcript	ENST00000394885.8	protein_coding	7/7	4353	INFO_REALIGN_3_PRIME	chr15	TogoVar
RCN2_chr15_76926749_76959393	76953575	ATATATAT others(13): Show ATATATATATATATATATATT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp1 HG01192.hp1 HG01433.hp2 others(5): Show HG01069.hp1 HG01192.hp1 HG01433.hp2 HG04184.hp1 HG04184.hp2 NA18969.hp1 NA18997.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0147 a0001c0001t0173 others(4): Show a0001c0001t0049 a0001c0001t0147 a0001c0001t0173 a0001c0001t0174 a0001c0001t0175 a0001c0001t0241 a0001c0001t0254	a0001c0001t0049g0004 a0001c0001t0147g0121 a0001c0001t0173g0004 others(4): Show a0001c0001t0049g0004 a0001c0001t0147g0121 a0001c0001t0173g0004 a0001c0001t0174g0158 a0001c0001t0175g0033 a0001c0001t0241g0004 a0001c0001t0254g0004	8	422	0.0190	-20	c.43 others(31): Show c.4355_*4374delATATATATATATATATATTT	RCN2	ENSG00000117906.14	transcript	ENST00000394885.8	protein_coding	7/7	4355	INFO_REALIGN_3_PRIME	chr15	TogoVar
RCOR1_chr14_102587649_102735561	102616206	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02970.hp1 HG00733.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0006 a0001c0001t0005g0118 a0001c0001t0003g0006 a0001c0001t0005g0118	2	292	0.0069	-20	c.361 others(39): Show c.361+22905_361+22924delGTGTGTGTGTGTGTGTGTGT	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102632611	ATCCTTTC others(13): Show ATCCTTTCCTTTCCTTTCCTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01167.hp1 HG01169.hp2 others(8): Show HG00639.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp2 HG01884.hp2 HG02818.hp2 HG02886.hp2 HG03579.hp2 HG04199.hp1 NA19030.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0003t0005	a0001c0001t0002g0237 a0001c0001t0005g0053 a0001c0001t0005g0114 others(8): Show a0001c0001t0002g0237 a0001c0001t0005g0053 a0001c0001t0005g0114 a0001c0001t0005g0121 a0001c0001t0005g0126 a0001c0001t0005g0132 a0001c0001t0005g0137 a0001c0001t0005g0138 a0001c0001t0005g0140 a0001c0001t0013g0123 a0001c0003t0005g0117	11	292	0.0377	-20	c.361 others(39): Show c.361+39338_361+39357delCCTTTCCTTTCCTTTCCTTT	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102632729	TCTCCCCT others(13): Show TCTCCCCTCCCCTCCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	292	0.0034	-20	c.361 others(39): Show c.361+39428_361+39447delCCCTCCCCTCCCCTCCCCTC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102639497	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp2 HG02647.hp1 others(1): Show HG00639.hp2 HG01243.hp2 HG02647.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0013 a0001c0001t0005 a0001c0001t0013	a0001c0001t0005g0116 a0001c0001t0005g0132 a0001c0001t0005g0138 others(1): Show a0001c0001t0005g0116 a0001c0001t0005g0132 a0001c0001t0005g0138 a0001c0001t0013g0123	4	292	0.0137	-20	c.362 others(39): Show c.362-42363_362-42344delTATTTATTTATTTATTTATT	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102692710	CTCCTTCC others(13): Show CTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0292 a0001c0001t0013g0292	1	292	0.0034	-20	c.446 others(37): Show c.446-8541_446-8522delCTTCCTTCCTTCCTTCCTTC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCSD1_chr1_167625232_167713696	167644488	AATACATA others(13): Show AATACATACATACATACATAC	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	350	0.0029	-20	c.6+1 others(35): Show c.6+14090_6+14109delACATACATACATACATACAT	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RCSD1_chr1_167625232_167713696	167701252	GTTTCTTT others(13): Show GTTTCTTTCTTTCTTTCTTTC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02922.hp2 HG03139.hp2 others(2): Show HG02258.hp2 HG02922.hp2 HG03139.hp2 HG03209.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0017 a0001c0001t0016 a0001c0001t0017	a0001c0001t0016g0112 a0001c0001t0016g0253 a0001c0001t0016g0327 others(2): Show a0001c0001t0016g0112 a0001c0001t0016g0253 a0001c0001t0016g0327 a0001c0001t0017g0338 a0001c0001t0017g0341	5	350	0.0143	-20	c.121 others(39): Show c.1219-3364_1219-3345delCTTTCTTTCTTTCTTTCTTT	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RDH10_chr8_73289602_73330281	73325948	CTGGGGTG others(13): Show CTGGGGTGTGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	396	0.0025	-20	c.29 others(31): Show c.2913_*2932delTGGGGTGTGTGTGTGTGTGT	RDH10	ENSG00000121039.10	transcript	ENST00000240285.10	protein_coding		668		chr8	TogoVar
RDH10_chr8_73289602_73330281	73325950	GGGGTGTG others(13): Show GGGGTGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	396	0.0025	-20	c.29 others(31): Show c.2915_*2934delGGGTGTGTGTGTGTGTGTGT	RDH10	ENSG00000121039.10	transcript	ENST00000240285.10	protein_coding		670		chr8	TogoVar
RDH10_chr8_73289602_73330281	73325952	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01123.hp1 HG01255.hp1 others(21): Show HG00544.hp1 HG01123.hp1 HG01255.hp1 HG01255.hp2 HG01358.hp2 HG01496.hp1 HG01928.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02818.hp1 HG03041.hp1 HG03704.hp2 HG04228.hp1 NA18906.hp1 NA18942.hp1 NA18947.hp2 NA19010.hp2 NA19068.hp1 NA19078.hp2 NA19080.hp2 NA19086.hp1 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0026 a0004c0004t0003	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0020 others(15): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0098 a0001c0001t0003g0149 a0001c0001t0003g0152 a0001c0001t0005g0005 a0001c0001t0005g0161 a0001c0001t0005g0165 a0001c0001t0005g0234 a0001c0001t0012g0022 a0001c0001t0026g0150 a0004c0004t0003g0080	24	396	0.0606	-20	c.29 others(31): Show c.2917_*2936delGTGTGTGTGTGTGTGTGTGT	RDH10	ENSG00000121039.10	transcript	ENST00000240285.10	protein_coding		672		chr8	TogoVar
RDH14_chr2_18549723_18565653	18549808	GAACAACA others(13): Show GAACAACAAGGTCTGGATGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00597.hp1 others(31): Show HG00280.hp1 HG00408.hp1 HG00597.hp1 HG01346.hp1 HG01928.hp2 HG01943.hp1 HG02027.hp2 HG02040.hp2 HG02109.hp2 HG02273.hp2 HG02486.hp1 HG02559.hp2 HG02735.hp1 HG03491.hp1 HG03669.hp1 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18959.hp2 NA18961.hp1 NA18967.hp2 NA18969.hp2 NA18978.hp1 NA18981.hp1 NA19007.hp1 NA19057.hp2 NA19059.hp2 NA19063.hp2 NA19065.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0003c0005	a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0003t0001g0010 a0001c0003t0001g0025 a0001c0007t0001g0024 a0003c0005t0001g0019	34	452	0.0752	-20	c.53 others(31): Show c.5363_*5382delGTCATCCAGACCTTGTTGTT	RDH14	ENSG00000240857.2	transcript	ENST00000381249.4	protein_coding		4914		chr2	TogoVar
RDH14_chr2_18549723_18565653	18552210	GATTATAA others(13): Show GATTATAAAAAGAAATCTGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	452	0.0022	-20	c.29 others(31): Show c.2961_*2980delGCCAGATTTCTTTTTATAAT	RDH14	ENSG00000240857.2	transcript	ENST00000381249.4	protein_coding		2512		chr2	TogoVar
RDH8_chr19_10008483_10027279	10016124	CTTATTTA others(13): Show CTTATTTATTTATTTATTTAT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0087 a0002c0001t0005g0087	1	464	0.0022	-20	c.104 others(35): Show c.104-910_104-891delATTTATTTATTTATTTATTT	RDH8	ENSG00000080511.5	transcript	ENST00000591589.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
RECK_chr9_36031913_36129455	36048126	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG04228.hp2 HG03710.hp1 HG04228.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0010 a0001c0008t0010	a0001c0008t0010g0362 a0001c0008t0010g0363 a0001c0008t0010g0362 a0001c0008t0010g0363	2	392	0.0051	-20	c.101 others(37): Show c.101-4124_101-4105delATATATATATATATATATAT	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36061393	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp2 HG02965.hp2 others(1): Show HG02559.hp1 HG02818.hp2 HG02965.hp2 HG03195.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0003 a0003c0006t0001 a0003c0006t0003	a0003c0006t0001g0387 a0003c0006t0003g0388 a0003c0006t0003g0389 others(1): Show a0003c0006t0001g0387 a0003c0006t0003g0388 a0003c0006t0003g0389 a0003c0006t0003g0390	4	392	0.0102	-20	c.271 others(37): Show c.271+1264_271+1283delCACACACACACACACACACA	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36073213	AACACACA others(13): Show AACACACAGACACACACAGAC	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18940.hp2 NA18967.hp2 others(5): Show HG02132.hp1 NA18940.hp2 NA18967.hp2 NA18980.hp1 NA18988.hp1 NA18997.hp2 NA19009.hp2 NA19083.hp2	a0002 a0002	a0002c0005 a0002c0012 a0002c0005 a0002c0012	a0002c0005t0001 a0002c0012t0001 a0002c0005t0001 a0002c0012t0001	a0002c0005t0001g0224 a0002c0005t0001g0236 a0002c0005t0001g0238 others(5): Show a0002c0005t0001g0224 a0002c0005t0001g0236 a0002c0005t0001g0238 a0002c0005t0001g0247 a0002c0005t0001g0249 a0002c0005t0001g0261 a0002c0005t0001g0273 a0002c0012t0001g0277	8	392	0.0204	-20	c.406 others(37): Show c.406-7374_406-7355delGACACACACAGACACACACA	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36073231	GACACACA others(13): Show GACACACACAGACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02895.hp1 HG02922.hp1 others(1): Show HG01884.hp2 HG02895.hp1 HG02922.hp1 HG03225.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0013 a0001c0001 a0006c0013	a0001c0001t0004 a0006c0013t0004 a0001c0001t0004 a0006c0013t0004	a0001c0001t0004g0297 a0001c0001t0004g0299 a0001c0001t0004g0300 others(1): Show a0001c0001t0004g0297 a0001c0001t0004g0299 a0001c0001t0004g0300 a0006c0013t0004g0298	4	392	0.0102	-20	c.406 others(37): Show c.406-7364_406-7345delGACACACACACACACACACA	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36104322	ATATATTT others(13): Show ATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02809.hp2 HG01891.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0344 a0001c0001t0001g0202 a0001c0001t0001g0344	2	392	0.0051	-20	c.143 others(37): Show c.1436-819_1436-800delATATTTTTTTTTTTTTTTTT	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
REEP1_chr2_86208993_86342626	86242498	CGGCATTA others(13): Show CGGCATTAACCTGGAGGAGAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00558.hp1 others(100): Show HG00323.hp2 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02071.hp2 HG02132.hp2 HG02135.hp2 HG02165.hp2 HG02523.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18939.hp2 NA18946.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18990.hp2 NA19002.hp2 NA19003.hp2 NA19011.hp2 NA19058.hp2 NA19062.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 others(11): Show a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0010 a0001c0002t0012 a0001c0002t0033 a0001c0002t0040 a0001c0002t0041 a0001c0002t0042 a0001c0002t0043 a0001c0002t0045 a0002c0003t0001	a0001c0001t0010g0082 a0001c0002t0001g0004 a0001c0002t0001g0022 others(99): Show a0001c0001t0010g0082 a0001c0002t0001g0004 a0001c0002t0001g0022 a0001c0002t0001g0026 a0001c0002t0001g0042 a0001c0002t0001g0045 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0127 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0172 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0187 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0224 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0265 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0273 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0178 a0001c0002t0002g0210 a0001c0002t0002g0266 a0001c0002t0004g0204 a0001c0002t0005g0241 a0001c0002t0010g0079 a0001c0002t0010g0161 a0001c0002t0010g0215 a0001c0002t0010g0232 a0001c0002t0010g0275 a0001c0002t0012g0108 a0001c0002t0012g0209 a0001c0002t0033g0077 a0001c0002t0040g0231 a0001c0002t0041g0213 a0001c0002t0042g0214 a0001c0002t0043g0233 a0001c0002t0045g0223 a0002c0003t0001g0186 a0002c0003t0001g0188 a0002c0003t0001g0196 a0002c0003t0001g0225 a0002c0003t0001g0257	103	320	0.3219	-20	c.417 others(37): Show c.417+9439_417+9458delATCTCCTCCAGGTTAATGCC	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding	5/8			chr2	TogoVar
REG1A_chr2_79115488_79128409	79119187	GATATATA others(13): Show GATATATATATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG02148.hp1 HG02486.hp2 others(13): Show HG00408.hp1 HG02148.hp1 HG02486.hp2 HG02698.hp2 HG03654.hp1 HG03669.hp1 HG04115.hp2 HG04228.hp1 NA18945.hp1 NA18948.hp1 NA18959.hp2 NA18975.hp2 NA18983.hp2 NA19057.hp2 NA19060.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0004g0002 a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0004g0002	16	452	0.0354	-20	c.-13 others(31): Show c.-1373_-1354delATATATATATATATATATAT	REG1A	ENSG00000115386.6	transcript	ENST00000233735.2	protein_coding		1300		chr2	TogoVar
RELB_chr19_44996464_45043192	45011795	TGTGAGAG others(13): Show TGTGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	382	0.0026	-20	c.164 others(35): Show c.164-139_164-120delTGAGAGAGAGAGAGAGAGAG	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45011797	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	382	0.0026	-20	c.164 others(35): Show c.164-120_164-101delGAGAGAGAGAGAGAGAGAGA	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELCH_chr18_62182255_62315249	62253267	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0031 a0004c0012t0031	a0004c0012t0031g0296 a0004c0012t0031g0296	1	340	0.0029	-20	c.182 others(37): Show c.1824+539_1824+558delGTGTGTGTGTGTGTGTGTGT	RELCH	ENSG00000134444.15	transcript	ENST00000644646.2	protein_coding	12/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
RELN_chr7_103466789_103994658	103491848	TCTCTCTC others(13): Show TCTCTCTCTCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01169.hp2 HG03516.hp2 HG01081.hp2 HG01169.hp2 HG03516.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0002 a0001c0011t0001 a0001c0011t0002	a0001c0011t0001g0119 a0001c0011t0001g0142 a0001c0011t0002g0014 a0001c0011t0001g0119 a0001c0011t0001g0142 a0001c0011t0002g0014	3	184	0.0163	-20	c.944 others(36): Show c.9443+85_9443+104delTGTGTGTGTGTGAGAGAGAG	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	58/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103491850	TCTCTCTC others(13): Show TCTCTCTCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 homoSapiens_chm13v2.hp1 HG01175.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0031 a0001c0001 a0002c0031	a0001c0001t0001 a0002c0031t0001 a0001c0001t0001 a0002c0031t0001	a0001c0001t0001g0130 a0002c0031t0001g0046 a0001c0001t0001g0130 a0002c0031t0001g0046	2	184	0.0109	-20	c.944 others(36): Show c.9443+83_9443+102delTGTGTGTGTGTGTGAGAGAG	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	58/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103491852	TCTCTCAC others(13): Show TCTCTCACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03130.hp1 HG03471.hp2 HG03098.hp1 HG03130.hp1 HG03471.hp2	a0001 a0001	a0001c0020 a0001c0057 a0001c0020 a0001c0057	a0001c0020t0001 a0001c0020t0004 a0001c0057t0001 a0001c0020t0001 a0001c0020t0004 a0001c0057t0001	a0001c0020t0001g0068 a0001c0020t0004g0162 a0001c0057t0001g0112 a0001c0020t0001g0068 a0001c0020t0004g0162 a0001c0057t0001g0112	3	184	0.0163	-20	c.944 others(36): Show c.9443+81_9443+100delTGTGTGTGTGTGTGTGAGAG	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	58/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103491856	TCACACAC others(13): Show TCACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0074 a0002c0009t0001g0074	1	184	0.0054	-20	c.944 others(35): Show c.9443+77_9443+96delTGTGTGTGTGTGTGTGTGTG	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	58/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103544220	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02622.hp2 HG02896.hp2 others(7): Show HG01175.hp2 HG02622.hp2 HG02896.hp2 HG02897.hp2 HG03098.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0005 a0001c0008 a0001c0023 others(5): Show a0001c0005 a0001c0008 a0001c0023 a0001c0026 a0001c0049 a0002c0010 a0002c0031 a0004c0017	a0001c0005t0002 a0001c0008t0002 a0001c0008t0008 others(7): Show a0001c0005t0002 a0001c0008t0002 a0001c0008t0008 a0001c0023t0001 a0001c0026t0001 a0001c0026t0002 a0001c0049t0002 a0002c0010t0009 a0002c0031t0001 a0004c0017t0001	a0001c0005t0002g0009 a0001c0008t0002g0034 a0001c0008t0008g0001 others(7): Show a0001c0005t0002g0009 a0001c0008t0002g0034 a0001c0008t0008g0001 a0001c0023t0001g0110 a0001c0026t0001g0128 a0001c0026t0002g0016 a0001c0049t0002g0023 a0002c0010t0009g0184 a0002c0031t0001g0046 a0004c0017t0001g0122	10	184	0.0544	-20	c.652 others(37): Show c.6523+884_6523+903delAAAAAAAAAAAAAAAAAAAA	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	42/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103773100	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG03098.hp1 NA19011.hp2 others(1): Show HG01169.hp1 HG03098.hp1 NA19011.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0020	a0001c0001t0001 a0001c0002t0002 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0006t0001 a0001c0020t0001	a0001c0001t0001g0132 a0001c0002t0002g0005 a0001c0006t0001g0097 others(1): Show a0001c0001t0001g0132 a0001c0002t0002g0005 a0001c0006t0001g0097 a0001c0020t0001g0068	4	184	0.0217	-20	c.544 others(37): Show c.544+3437_544+3456delGAAAGAAAGAAAGAAAGAAA	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	4/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103905672	CCACAGGA others(13): Show CCACAGGAGTGAAGATGACTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(175): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18979.hp1 NA18979.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(34): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038	a0001c0001 a0001c0002 a0001c0003 others(81): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0018 a0001c0019 a0001c0020 a0001c0022 a0001c0023 a0001c0024 a0001c0026 a0001c0039 a0001c0040 a0001c0041 a0001c0043 a0001c0044 a0001c0049 a0001c0050 a0001c0051 a0001c0052 a0001c0057 a0001c0066 a0001c0067 a0001c0068 a0001c0069 a0001c0070 a0001c0073 a0002c0009 a0002c0010 a0002c0014 a0002c0015 a0002c0021 a0002c0030 a0002c0031 a0002c0060 a0003c0016 a0003c0027 a0003c0076 a0003c0078 a0004c0017 a0004c0064 a0004c0065 a0005c0081 a0005c0082 a0005c0084 a0006c0013 a0007c0012 a0008c0047 a0008c0058 a0009c0025 a0010c0034 a0010c0063 a0011c0045 a0012c0056 a0013c0054 a0014c0033 a0015c0071 a0016c0062 a0017c0036 a0018c0079 a0019c0059 a0020c0074 a0021c0083 a0022c0046 a0023c0035 a0024c0037 a0025c0086 a0027c0072 a0028c0032 a0029c0061 a0030c0077 a0031c0053 a0032c0055 a0033c0085 a0034c0080 a0035c0029 a0036c0038 a0037c0028 a0038c0075	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(113): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0011 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0004t0001 a0001c0004t0003 a0001c0004t0005 a0001c0005t0001 a0001c0005t0002 a0001c0005t0007 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0007t0001 a0001c0007t0003 a0001c0007t0004 a0001c0008t0001 a0001c0008t0002 a0001c0008t0004 a0001c0008t0008 a0001c0011t0001 a0001c0011t0002 a0001c0018t0001 a0001c0019t0001 a0001c0019t0002 a0001c0020t0001 a0001c0020t0004 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0001c0026t0001 a0001c0026t0002 a0001c0039t0005 a0001c0040t0001 a0001c0041t0001 a0001c0043t0001 a0001c0044t0016 a0001c0049t0002 a0001c0050t0002 a0001c0051t0010 a0001c0052t0003 a0001c0057t0001 a0001c0066t0001 a0001c0067t0002 a0001c0068t0002 a0001c0069t0007 a0001c0070t0017 a0001c0073t0001 a0002c0009t0001 a0002c0010t0001 a0002c0010t0002 a0002c0010t0009 a0002c0014t0001 a0002c0015t0001 a0002c0015t0002 a0002c0015t0003 a0002c0021t0001 a0002c0030t0002 a0002c0031t0001 a0002c0060t0001 a0003c0016t0001 a0003c0027t0001 a0003c0076t0002 a0003c0078t0005 a0004c0017t0001 a0004c0017t0004 a0004c0064t0002 a0004c0065t0001 a0005c0081t0001 a0005c0082t0001 a0005c0084t0001 a0006c0013t0001 a0006c0013t0002 a0007c0012t0001 a0007c0012t0002 a0008c0047t0008 a0008c0058t0002 a0009c0025t0006 a0010c0034t0001 a0010c0063t0001 a0011c0045t0001 a0012c0056t0002 a0013c0054t0001 a0014c0033t0001 a0015c0071t0001 a0016c0062t0002 a0017c0036t0001 a0018c0079t0015 a0019c0059t0001 a0020c0074t0002 a0021c0083t0014 a0022c0046t0004 a0023c0035t0001 a0024c0037t0006 a0025c0086t0001 a0027c0072t0001 a0028c0032t0001 a0029c0061t0001 a0030c0077t0001 a0031c0053t0001 a0032c0055t0001 a0033c0085t0006 a0034c0080t0001 a0035c0029t0001 a0036c0038t0005 a0037c0028t0001 a0038c0075t0001	a0001c0001t0001g0045 a0001c0001t0001g0066 a0001c0001t0001g0073 others(175): Show a0001c0001t0001g0045 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0111 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0002g0010 a0001c0001t0002g0030 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0004g0160 a0001c0001t0013g0164 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0094 a0001c0002t0001g0099 a0001c0002t0001g0101 a0001c0002t0001g0136 a0001c0002t0001g0139 a0001c0002t0002g0005 a0001c0002t0002g0015 a0001c0002t0003g0167 a0001c0002t0011g0177 a0001c0003t0001g0093 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0117 a0001c0003t0001g0124 a0001c0003t0002g0012 a0001c0003t0002g0017 a0001c0003t0003g0171 a0001c0003t0003g0175 a0001c0003t0005g0180 a0001c0004t0001g0051 a0001c0004t0001g0052 a0001c0004t0001g0065 a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0004t0001g0100 a0001c0004t0001g0137 a0001c0004t0003g0166 a0001c0004t0005g0179 a0001c0005t0001g0037 a0001c0005t0001g0044 a0001c0005t0001g0144 a0001c0005t0001g0145 a0001c0005t0002g0007 a0001c0005t0002g0009 a0001c0005t0002g0032 a0001c0005t0007g0109 a0001c0005t0007g0118 a0001c0006t0001g0047 a0001c0006t0001g0082 a0001c0006t0001g0087 a0001c0006t0001g0097 a0001c0006t0001g0141 a0001c0006t0002g0027 a0001c0006t0003g0174 a0001c0006t0003g0176 a0001c0007t0001g0049 a0001c0007t0001g0050 a0001c0007t0001g0071 a0001c0007t0001g0080 a0001c0007t0001g0115 a0001c0007t0003g0172 a0001c0007t0004g0158 a0001c0008t0001g0114 a0001c0008t0001g0138 a0001c0008t0002g0034 a0001c0008t0004g0159 a0001c0008t0008g0001 a0001c0011t0001g0119 a0001c0011t0001g0142 a0001c0011t0002g0014 a0001c0018t0001g0059 a0001c0018t0001g0081 a0001c0019t0001g0069 a0001c0019t0002g0011 a0001c0020t0001g0068 a0001c0020t0004g0162 a0001c0022t0001g0102 a0001c0022t0001g0103 a0001c0023t0001g0110 a0001c0023t0001g0134 a0001c0024t0001g0058 a0001c0024t0001g0072 a0001c0026t0001g0128 a0001c0026t0002g0016 a0001c0039t0005g0182 a0001c0040t0001g0078 a0001c0041t0001g0075 a0001c0043t0001g0061 a0001c0044t0016g0035 a0001c0049t0002g0023 a0001c0050t0002g0003 a0001c0051t0010g0178 a0001c0052t0003g0168 a0001c0057t0001g0112 a0001c0066t0001g0062 a0001c0067t0002g0008 a0001c0068t0002g0025 a0001c0069t0007g0123 a0001c0070t0017g0024 a0001c0073t0001g0120 a0002c0009t0001g0056 a0002c0009t0001g0057 a0002c0009t0001g0074 a0002c0009t0001g0131 a0002c0010t0001g0133 a0002c0010t0002g0019 a0002c0010t0009g0184 a0002c0014t0001g0064 a0002c0014t0001g0088 a0002c0014t0001g0143 a0002c0015t0001g0055 a0002c0015t0002g0013 a0002c0015t0003g0173 a0002c0021t0001g0113 a0002c0021t0001g0140 a0002c0030t0002g0031 a0002c0031t0001g0046 a0002c0060t0001g0067 a0003c0016t0001g0053 a0003c0016t0001g0098 a0003c0016t0001g0135 a0003c0027t0001g0095 a0003c0027t0001g0146 a0003c0076t0002g0028 a0003c0078t0005g0181 a0004c0017t0001g0122 a0004c0017t0004g0163 a0004c0064t0002g0004 a0004c0065t0001g0147 a0005c0081t0001g0157 a0005c0082t0001g0156 a0005c0084t0001g0153 a0006c0013t0001g0126 a0006c0013t0002g0018 a0006c0013t0002g0022 a0007c0012t0001g0070 a0007c0012t0001g0096 a0007c0012t0002g0006 a0008c0047t0008g0002 a0008c0058t0002g0020 a0009c0025t0006g0039 a0009c0025t0006g0040 a0010c0034t0001g0089 a0010c0063t0001g0063 a0011c0045t0001g0043 a0012c0056t0002g0021 a0013c0054t0001g0149 a0014c0033t0001g0054 a0015c0071t0001g0108 a0016c0062t0002g0029 a0017c0036t0001g0121 a0018c0079t0015g0150 a0019c0059t0001g0036 a0020c0074t0002g0026 a0021c0083t0014g0152 a0022c0046t0004g0161 a0023c0035t0001g0148 a0024c0037t0006g0107 a0025c0086t0001g0154 a0027c0072t0001g0125 a0028c0032t0001g0076 a0029c0061t0001g0060 a0030c0077t0001g0048 a0031c0053t0001g0104 a0032c0055t0001g0079 a0033c0085t0006g0151 a0034c0080t0001g0155 a0035c0029t0001g0077 a0036c0038t0005g0183 a0037c0028t0001g0042 a0038c0075t0001g0127	178	184	0.9674	-20	c.337 others(39): Show c.337+11383_337+11402delAAGTCATCTTCACTCCTGTG	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	2/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103924985	TACACATA others(13): Show TACACATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0002 a0006c0013t0002	a0006c0013t0002g0022 a0006c0013t0002g0022	1	184	0.0054	-20	c.227 others(37): Show c.227-7820_227-7801delGTGTGTGTGTGTGTATGTGT	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	1/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103926626	AGTTTTTT others(13): Show AGTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0158 a0001c0007t0004g0158	1	184	0.0054	-20	c.227 others(37): Show c.227-9461_227-9442delAAAAAAAAAAAAAAAAAAAC	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	1/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103926627	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG01070.hp2 others(40): Show HG00438.hp1 HG00558.hp1 HG01070.hp2 HG01071.hp2 HG01192.hp1 HG01243.hp1 HG01891.hp1 HG02071.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02735.hp1 HG02895.hp1 HG02897.hp2 HG03453.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18957.hp1 NA18966.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19062.hp1 NA19067.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009 a0019 a0032 a0033 a0034 a0035	a0001c0001 a0001c0002 a0001c0003 others(26): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0018 a0001c0023 a0001c0024 a0001c0026 a0001c0044 a0001c0051 a0001c0066 a0001c0068 a0002c0009 a0002c0015 a0002c0030 a0003c0076 a0003c0078 a0005c0081 a0006c0013 a0008c0058 a0009c0025 a0019c0059 a0032c0055 a0033c0085 a0034c0080 a0035c0029	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(30): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001 a0001c0004t0003 a0001c0005t0001 a0001c0005t0007 a0001c0006t0001 a0001c0006t0003 a0001c0008t0008 a0001c0018t0001 a0001c0023t0001 a0001c0024t0001 a0001c0026t0002 a0001c0044t0016 a0001c0051t0010 a0001c0066t0001 a0001c0068t0002 a0002c0009t0001 a0002c0015t0002 a0002c0030t0002 a0003c0076t0002 a0003c0078t0005 a0005c0081t0001 a0006c0013t0002 a0008c0058t0002 a0009c0025t0006 a0019c0059t0001 a0032c0055t0001 a0033c0085t0006 a0034c0080t0001 a0035c0029t0001	a0001c0001t0001g0073 a0001c0001t0001g0111 a0001c0001t0003g0169 others(40): Show a0001c0001t0001g0073 a0001c0001t0001g0111 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0004g0160 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0094 a0001c0002t0001g0099 a0001c0002t0001g0139 a0001c0003t0001g0106 a0001c0004t0003g0166 a0001c0005t0001g0044 a0001c0005t0001g0144 a0001c0005t0007g0109 a0001c0005t0007g0118 a0001c0006t0001g0097 a0001c0006t0003g0174 a0001c0006t0003g0176 a0001c0008t0008g0001 a0001c0018t0001g0081 a0001c0023t0001g0134 a0001c0024t0001g0058 a0001c0026t0002g0016 a0001c0044t0016g0035 a0001c0051t0010g0178 a0001c0066t0001g0062 a0001c0068t0002g0025 a0002c0009t0001g0131 a0002c0015t0002g0013 a0002c0030t0002g0031 a0003c0076t0002g0028 a0003c0078t0005g0181 a0005c0081t0001g0157 a0006c0013t0002g0022 a0008c0058t0002g0020 a0009c0025t0006g0039 a0009c0025t0006g0040 a0019c0059t0001g0036 a0032c0055t0001g0079 a0033c0085t0006g0151 a0034c0080t0001g0155 a0035c0029t0001g0077	43	184	0.2337	-20	c.227 others(37): Show c.227-9462_227-9443delAAAAAAAAAAAAAAAAAAAA	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	1/64			chr7	TogoVar
REL_chr2_60876574_60936612	60917680	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0138 a0001c0001t0010g0138	1	276	0.0036	-20	c.536 others(35): Show c.536-495_536-476delGTGTGTGTGTGTGTGTGTGT	REL	ENSG00000162924.16	transcript	ENST00000394479.4	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
REM1_chr20_31470288_31489895	31486392	CGAGAGAG others(13): Show CGAGAGAGAGAGAGACAGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01257.hp2 HG01346.hp2 others(5): Show HG00323.hp2 HG01257.hp2 HG01346.hp2 HG02109.hp1 HG02976.hp1 HG03209.hp1 HG03579.hp1 NA18522.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0009c0008 a0002c0002 a0009c0008	a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 others(1): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0009c0008t0001	a0002c0002t0001g0015 a0002c0002t0001g0101 a0002c0002t0003g0038 others(2): Show a0002c0002t0001g0015 a0002c0002t0001g0101 a0002c0002t0003g0038 a0002c0002t0005g0022 a0009c0008t0001g0108	8	344	0.0233	-20	c.19 others(31): Show c.1963_*1982delGAGAGAGAGAGAGACAGAGA	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		1498		chr20	TogoVar
REM1_chr20_31470288_31489895	31486407	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02523.hp2 NA18612.hp1 HG02080.hp1 HG02523.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	3	344	0.0087	-20	c.19 others(31): Show c.1978_*1997delAGAGAGAGAGAGAGAGAGAG	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		1513		chr20	TogoVar
REPS2_chrX_16941658_17158272	16951541	ACACACAC others(13): Show ACACACACACACACACACACC	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA20805.hp1 NA20905.hp1 NA19030.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0006g0132 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0006g0132	3	166	0.0181	-20	c.273 others(37): Show c.273+4409_273+4428delACACACACACACACACACCC	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	16953100	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	166	0.0060	-20	c.273 others(37): Show c.273+5992_273+6011delCACACACACACACACACACA	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RERE_chr1_8347404_8822640	8349637	CCCGTCCG others(13): Show CCCGTCCGTCCGTCCATCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG03041.hp1 HG03471.hp1 HG02886.hp2 HG03041.hp1 HG03471.hp1	a0001 a0006 a0001 a0006	a0001c0004 a0006c0013 a0001c0004 a0006c0013	a0001c0004t0027 a0006c0013t0021 a0006c0013t0029 a0001c0004t0027 a0006c0013t0021 a0006c0013t0029	a0001c0004t0027g0106 a0006c0013t0021g0023 a0006c0013t0029g0111 a0001c0004t0027g0106 a0006c0013t0021g0023 a0006c0013t0029g0111	3	204	0.0147	-20	c.54 others(31): Show c.5430_*5449delACGGATGGACGGACGGACGG	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding		2766		chr1	TogoVar

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