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
RERE_chr1_8347404_8822640	8401038	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0035 a0001c0003t0004g0035	1	204	0.0049	-20	c.128 others(41): Show c.1284+21669_1284+21688delATATATATATATATATATAT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8490870	TAGTAGTT others(13): Show TAGTAGTTTCACAGATTTATA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03453.hp2 HG02886.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0027 a0001c0004t0010 a0001c0004t0027	a0001c0004t0010g0107 a0001c0004t0027g0106 a0001c0004t0010g0107 a0001c0004t0027g0106	2	204	0.0098	-20	c.110 others(39): Show c.1104+4173_1104+4192delTATAAATCTGTGAAACTACT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	10/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8531007	TTCTATCT others(13): Show TTCTATCTATCTATCTATCTA	T T	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18993.hp1 HG02074.hp1 NA18993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0011 a0001c0003t0004 a0001c0003t0011	a0001c0003t0004g0042 a0001c0003t0011g0096 a0001c0003t0004g0042 a0001c0003t0011g0096	2	204	0.0098	-20	c.830 others(39): Show c.830+10187_830+10206delTAGATAGATAGATAGATAGA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8561465	TCAGTCTG others(13): Show TCAGTCTGCAACTGCTAGTTG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03130.hp1 HG03579.hp1 HG02622.hp1 HG03130.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0002t0032 a0001c0005t0034 a0001c0002t0002 a0001c0002t0032 a0001c0005t0034	a0001c0002t0002g0157 a0001c0002t0032g0155 a0001c0005t0034g0156 a0001c0002t0002g0157 a0001c0002t0032g0155 a0001c0005t0034g0156	3	204	0.0147	-20	c.523 others(37): Show c.523-3962_523-3943delCAACTAGCAGTTGCAGACTG	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8601626	CCACACAC others(13): Show CCACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0113 a0001c0001t0023g0113	1	204	0.0049	-20	c.522 others(39): Show c.522+12915_522+12934delTGTGTGTGTGTGTGTGTGTG	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8604614	GAGGGAGG others(13): Show GAGGGAGGGAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0114 a0001c0002t0005g0114	1	204	0.0049	-20	c.522 others(37): Show c.522+9927_522+9946delTCCTTCCTTCCTCCCTCCCT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8604622	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02970.hp2 HG06807.hp1 HG02145.hp1 HG02970.hp2 HG06807.hp1	a0001 a0011 a0001 a0011	a0001c0004 a0001c0009 a0011c0024 a0001c0004 a0001c0009 a0011c0024	a0001c0004t0040 a0001c0009t0041 a0011c0024t0039 a0001c0004t0040 a0001c0009t0041 a0011c0024t0039	a0001c0004t0040g0199 a0001c0009t0041g0198 a0011c0024t0039g0197 a0001c0004t0040g0199 a0001c0009t0041g0198 a0011c0024t0039g0197	3	204	0.0147	-20	c.522 others(37): Show c.522+9919_522+9938delTCCTTCCTTCCTTCCTTCCT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8635942	TTTATTTT others(13): Show TTTATTTTATCTTATCTTATC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03130.hp2 HG03471.hp1 others(1): Show HG02965.hp1 HG03130.hp2 HG03471.hp1 NA19009.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0001c0005 a0001c0010 others(1): Show a0001c0003 a0001c0005 a0001c0010 a0006c0013	a0001c0003t0004 a0001c0005t0019 a0001c0010t0007 others(1): Show a0001c0003t0004 a0001c0005t0019 a0001c0010t0007 a0006c0013t0021	a0001c0003t0004g0078 a0001c0005t0019g0030 a0001c0010t0007g0034 others(1): Show a0001c0003t0004g0078 a0001c0005t0019g0030 a0001c0010t0007g0034 a0006c0013t0021g0023	4	204	0.0196	-20	c.326 others(39): Show c.326-11582_326-11563delGATAAGATAAGATAAAATAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	2/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8675738	TATACATA others(13): Show TATACATACATACATACATAC	T T	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19009.hp1 NA19085.hp2 others(1): Show NA19007.hp1 NA19009.hp1 NA19085.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0070 a0001c0001t0001g0076 others(1): Show a0001c0001t0001g0048 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0077	4	204	0.0196	-20	c.-14 others(41): Show c.-144-19317_-144-19298delGTATGTATGTATGTATGTAT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8782711	GCCTGGCC others(13): Show GCCTGGCCAAAATGGTGAAAT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00597.hp1 others(42): Show HG00280.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00741.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01934.hp1 HG02004.hp1 HG02074.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02523.hp2 HG02683.hp2 HG02723.hp1 HG02735.hp2 HG03041.hp1 HG03195.hp2 HG03491.hp1 HG03669.hp1 HG03688.hp2 HG04228.hp2 HG06807.hp2 NA18944.hp2 NA18964.hp1 NA18973.hp2 NA18983.hp1 NA18985.hp1 NA18993.hp2 NA19000.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp2 NA19043.hp1 NA19074.hp2 NA19090.hp2 NA20129.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0015	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0023 a0001c0027 a0002c0006 a0002c0033 a0004c0022 a0006c0013 a0015c0018	a0001c0001t0003 a0001c0001t0023 a0001c0001t0030 others(20): Show a0001c0001t0003 a0001c0001t0023 a0001c0001t0030 a0001c0001t0031 a0001c0001t0037 a0001c0001t0038 a0001c0002t0005 a0001c0002t0006 a0001c0003t0008 a0001c0003t0011 a0001c0004t0003 a0001c0004t0005 a0001c0004t0006 a0001c0004t0025 a0001c0007t0003 a0001c0023t0014 a0001c0027t0008 a0002c0006t0003 a0002c0006t0024 a0002c0033t0003 a0004c0022t0003 a0006c0013t0029 a0015c0018t0003	a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0093 others(42): Show a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0100 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0023g0113 a0001c0001t0030g0143 a0001c0001t0031g0144 a0001c0001t0037g0196 a0001c0001t0038g0195 a0001c0002t0005g0110 a0001c0002t0005g0114 a0001c0002t0005g0116 a0001c0002t0006g0145 a0001c0003t0008g0085 a0001c0003t0008g0105 a0001c0003t0011g0096 a0001c0003t0011g0108 a0001c0003t0011g0112 a0001c0004t0003g0092 a0001c0004t0003g0109 a0001c0004t0005g0079 a0001c0004t0005g0083 a0001c0004t0006g0146 a0001c0004t0025g0080 a0001c0007t0003g0084 a0001c0007t0003g0099 a0001c0023t0014g0119 a0001c0027t0008g0082 a0002c0006t0003g0089 a0002c0006t0003g0090 a0002c0006t0003g0091 a0002c0006t0003g0094 a0002c0006t0003g0097 a0002c0006t0024g0081 a0002c0033t0003g0086 a0004c0022t0003g0098 a0006c0013t0029g0111 a0015c0018t0003g0101	45	204	0.2206	-20	c.-14 others(41): Show c.-145+34429_-145+34448delATTTCACCATTTTGGCCAGG	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERG_chr12_15102783_15226417	15148847	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	300	0.0033	-20	c.62- others(37): Show c.62-27748_62-27729delAAAAAAAAAAAAAAAAAAAA	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RERG_chr12_15102783_15226417	15161138	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02698.hp2 HG03017.hp1 HG02630.hp1 HG02698.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0009 a0001c0001t0001 a0001c0002t0009	a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0002t0009g0228 a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0002t0009g0228	3	300	0.0100	-20	c.62- others(37): Show c.62-40039_62-40020delCTTTCTTTCTTTCTTTCTTT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RERG_chr12_15102783_15226417	15161210	GAAAGAAA others(13): Show GAAAGAAAGAAAGAAAGAAAC	G G	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01993.hp2 HG02004.hp1 others(6): Show HG01978.hp2 HG01993.hp2 HG02004.hp1 NA18945.hp1 NA18946.hp2 NA18953.hp2 NA18971.hp1 NA18980.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0068 a0001c0001t0001g0204 a0001c0001t0002g0041 others(6): Show a0001c0001t0001g0068 a0001c0001t0001g0204 a0001c0001t0002g0041 a0001c0001t0002g0179 a0001c0002t0001g0045 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0210 a0001c0002t0001g0222	9	300	0.0300	-20	c.62- others(37): Show c.62-40111_62-40092delGTTTCTTTCTTTCTTTCTTT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RERG_chr12_15102783_15226417	15195551	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA20300.hp1 HG02922.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0111 a0001c0001t0001g0112	2	300	0.0067	-20	c.61+ others(37): Show c.61+21858_61+21877delCACACACACACACACACACA	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RERG_chr12_15102783_15226417	15214021	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGCGC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	300	0.0033	-20	c.61+ others(35): Show c.61+3388_61+3407delGCGCACACACACACACACAC	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RETNLB_chr3_108750638_108762410	108759523	GTATGTAT others(13): Show GTATGTATGTGTATACATACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG02451.hp2 others(9): Show HG00140.hp2 HG00280.hp1 HG02451.hp2 HG02717.hp2 HG02723.hp1 HG02886.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03710.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0002 a0002c0002t0002 a0004c0004t0004 a0001c0001t0002 a0002c0002t0002 a0004c0004t0004	a0001c0001t0002g0003 a0002c0002t0002g0004 a0004c0004t0004g0007 a0001c0001t0002g0003 a0002c0002t0002g0004 a0004c0004t0004g0007	12	452	0.0266	-20	c.-23 others(31): Show c.-2358_-2339delTGTATGTATACACATACATA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2114		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759610	CATACATA others(13): Show CATACATATGTATGTATGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	452	0.0022	-20	c.-24 others(31): Show c.-2445_-2426delACACATACATACATATGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2201		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759667	GTATGTAT others(13): Show GTATGTATGTGTATACATACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG03041.hp2 HG03710.hp2 HG00140.hp2 HG03041.hp2 HG03710.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0007 a0004c0004t0004g0007	3	452	0.0066	-20	c.-25 others(31): Show c.-2502_-2483delTGTATGTATACACATACATA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2258		chr3	TogoVar
RETREG1_chr5_16468053_16621997	16489082	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01169.hp2 HG01175.hp2 others(2): Show HG00642.hp1 HG01169.hp2 HG01175.hp2 HG04184.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0029 a0001c0001t0003g0128 a0001c0001t0003g0175 others(2): Show a0001c0001t0003g0029 a0001c0001t0003g0128 a0001c0001t0003g0175 a0001c0001t0003g0196 a0001c0001t0006g0256	5	294	0.0170	-20	c.459 others(37): Show c.459-5630_459-5611delTTTTTTTTTTTTTTTTTTTT	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	3/8			chr5	TogoVar
RETREG1_chr5_16468053_16621997	16541739	GGGAAGGA others(13): Show GGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp2 HG02630.hp1 others(6): Show HG01243.hp1 HG02486.hp2 HG02630.hp1 HG02886.hp2 HG02922.hp1 HG03139.hp1 HG03516.hp1 HG04184.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0004t0009	a0001c0001t0001g0010 a0001c0001t0001g0063 a0001c0001t0001g0096 others(6): Show a0001c0001t0001g0010 a0001c0001t0001g0063 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0003g0061 a0001c0002t0002g0011 a0001c0002t0002g0120 a0001c0002t0002g0179 a0001c0004t0009g0258	9	294	0.0306	-20	c.458 others(39): Show c.458+24004_458+24023delTTCCTTCCTTCCTTCCTTCC	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	3/8			chr5	TogoVar
RETREG1_chr5_16468053_16621997	16581526	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0021 a0001c0004t0007g0021	1	294	0.0034	-20	c.321 others(37): Show c.321-9444_321-9425delGTGTGTGTGTGTGTGTGTGT	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	1/8			chr5	TogoVar
RETREG2_chr2_219173275_219190475	219188597	TTTTTATT others(13): Show TTTTTATTTTATTTTATTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00423.hp2 others(101): Show HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00741.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp2 HG02886.hp2 HG02896.hp2 HG03491.hp1 HG03654.hp2 HG03710.hp1 NA18612.hp1 NA18612.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19010.hp2 NA19012.hp2 NA19062.hp1 NA19063.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19076.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0002 a0001c0003 a0002c0001 others(3): Show a0001c0002 a0001c0003 a0002c0001 a0003c0004 a0003c0008 a0010c0014	a0001c0002t0004 a0001c0003t0002 a0001c0003t0008 others(13): Show a0001c0002t0004 a0001c0003t0002 a0001c0003t0008 a0001c0003t0020 a0001c0003t0022 a0001c0003t0031 a0001c0003t0032 a0001c0003t0033 a0001c0003t0034 a0001c0003t0040 a0001c0003t0050 a0002c0001t0035 a0003c0004t0003 a0003c0004t0011 a0003c0008t0002 a0010c0014t0008	a0001c0002t0004g0003 a0001c0003t0002g0001 a0001c0003t0002g0009 others(15): Show a0001c0002t0004g0003 a0001c0003t0002g0001 a0001c0003t0002g0009 a0001c0003t0002g0016 a0001c0003t0008g0001 a0001c0003t0020g0001 a0001c0003t0022g0001 a0001c0003t0031g0001 a0001c0003t0032g0001 a0001c0003t0033g0001 a0001c0003t0034g0001 a0001c0003t0040g0001 a0001c0003t0050g0001 a0002c0001t0035g0002 a0003c0004t0003g0003 a0003c0004t0011g0003 a0003c0008t0002g0001 a0010c0014t0008g0001	104	430	0.2419	-20	c.59 others(31): Show c.5969_*5988delTTTTATTTTATTTTATTTTA	RETREG2	ENSG00000144567.11	transcript	ENST00000430297.7	protein_coding		3123		chr2	TogoVar
RETREG3_chr17_42574515_42614374	42597603	ATATATAT others(13): Show ATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp2 HG02109.hp2 others(2): Show HG00735.hp2 HG01891.hp2 HG02109.hp2 HG03471.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0120 a0001c0001t0004g0142 a0001c0001t0004g0004 a0001c0001t0004g0120 a0001c0001t0004g0142	5	360	0.0139	-20	c.240 others(37): Show c.240-5461_240-5442delAAAATATATATATATATATA	RETREG3	ENSG00000141699.11	transcript	ENST00000309428.10	protein_coding	1/8			chr17	TogoVar
RETREG3_chr17_42574515_42614374	42609506	GGAGCCGG others(13): Show GGAGCCGGATCCGGAGGCGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02258.hp2 others(2): Show HG01884.hp1 HG02055.hp2 HG02258.hp2 HG02572.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0147 a0001c0001t0005g0159 a0001c0001t0005g0160 others(2): Show a0001c0001t0005g0147 a0001c0001t0005g0159 a0001c0001t0005g0160 a0001c0001t0005g0163 a0001c0001t0005g0164	5	360	0.0139	-20	c.-20 others(29): Show c.-202_-183delGGCGCCTCCGGATCCGGCTC	RETREG3	ENSG00000141699.11	transcript	ENST00000309428.10	protein_coding		133		chr17	TogoVar
RETREG3_chr17_42574515_42614374	42609513	GATCCGGA others(13): Show GATCCGGAGGCGCCGAGCCGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0013 a0007c0006t0013	a0007c0006t0013g0282 a0007c0006t0013g0282	1	360	0.0028	-20	c.-20 others(29): Show c.-209_-190delGCGGCTCGGCGCCTCCGGAT	RETREG3	ENSG00000141699.11	transcript	ENST00000309428.10	protein_coding		140		chr17	TogoVar
REV1_chr2_99395477_99495017	99403979	TAGAGCAA others(13): Show TAGAGCAAGAATAAGGAATTA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 NA19240.hp1 HG02055.hp2 HG02109.hp2 NA19240.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0010c0012 a0002c0002 a0010c0012	a0002c0002t0001 a0010c0012t0001 a0002c0002t0001 a0010c0012t0001	a0002c0002t0001g0217 a0002c0002t0001g0218 a0010c0012t0001g0115 a0002c0002t0001g0217 a0002c0002t0001g0218 a0010c0012t0001g0115	3	324	0.0093	-20	c.304 others(37): Show c.3046-184_3046-165delTAATTCCTTATTCTTGCTCT	REV1	ENSG00000135945.10	transcript	ENST00000258428.8	protein_coding	18/22			chr2	TogoVar
REV1_chr2_99395477_99495017	99489467	CGGGATGC others(13): Show CGGGATGCGGCCGGGCGCGGA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0001 a0009c0017t0001	a0009c0017t0001g0049 a0009c0017t0001g0049	1	324	0.0031	-20	c.-11 others(35): Show c.-11+330_-11+349delTCCGCGCCCGGCCGCATCCC	REV1	ENSG00000135945.10	transcript	ENST00000258428.8	protein_coding	1/22			chr2	TogoVar
REV3L_chr6_111294033_111488218	111303681	TTTTTTTT others(13): Show TTTTTTTTAACAGACTATGAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01192.hp2 HG01243.hp2 others(6): Show HG00741.hp1 HG01192.hp2 HG01243.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02148.hp2 NA18961.hp1 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0150 a0002c0002t0001g0162 a0002c0002t0001g0194 others(6): Show a0002c0002t0001g0150 a0002c0002t0001g0162 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0199 a0002c0002t0001g0201 a0002c0002t0001g0206 a0002c0002t0001g0226 a0002c0002t0001g0239	9	288	0.0313	-20	c.925 others(39): Show c.9253-3545_9253-3526delGTCATAGTCTGTTAAAAAAA	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	31/31			chr6	TogoVar
REXO5_chr16_20801527_20854665	20820512	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0250 a0001c0002t0001g0250	1	372	0.0027	-20	c.476 others(37): Show c.476-1236_476-1217delATATATATATATATATATAT	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
REXO5_chr16_20801527_20854665	20820534	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	372	0.0027	-20	c.476 others(37): Show c.476-1226_476-1207delATATATATATTTTTTTTTTT	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
RFC1_chr4_39282456_39371362	39337435	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp1 HG02970.hp1 HG02145.hp2 HG02486.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0256 a0001c0001t0007g0255 a0001c0001t0007g0260 a0001c0001t0001g0256 a0001c0001t0007g0255 a0001c0001t0007g0260	3	276	0.0109	-20	c.331 others(37): Show c.331+4890_331+4909delACACACACACACACACACAC	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	4/24			chr4	TogoVar
RFC1_chr4_39282456_39371362	39346780	AGAAGAAG others(13): Show AGAAGAAGGTATCAAGTAAAG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	276	0.0036	-20	c.133 others(37): Show c.133-1324_133-1305delCTTTACTTGATACCTTCTTC	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RFC1_chr4_39282456_39371362	39348424	AAAAAGAA others(13): Show AAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0272 a0001c0004t0004g0272	1	276	0.0036	-20	c.132 others(37): Show c.132+2904_132+2923delCTTTTCTTTTCTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RFC4_chr3_186784900_186811482	186809520	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	432	0.0023	-20	c.-32 others(31): Show c.-3262_-3243delTACACACACACACACACACA	RFC4	ENSG00000163918.12	transcript	ENST00000296273.7	protein_coding		3039		chr3	TogoVar
RFC4_chr3_186784900_186811482	186809553	GAGAGAGA others(13): Show GAGAGAGAGAGAGAGAGAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 NA20752.hp2 HG01243.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0146 a0001c0001t0001g0054 a0001c0001t0001g0146	2	432	0.0046	-20	c.-32 others(31): Show c.-3295_-3276delTTCTCTCTCTCTCTCTCTCT	RFC4	ENSG00000163918.12	transcript	ENST00000296273.7	protein_coding		3072		chr3	TogoVar
RFLNA_chr12_124290093_124321024	124300757	TGGATGGA others(13): Show TGGATGGATGGATGGATTGAC	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02615.hp1 HG02818.hp1 others(2): Show HG02155.hp1 HG02615.hp1 HG02818.hp1 HG03209.hp2 NA18995.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0008c0012 a0001c0001 a0001c0003 a0008c0012	a0001c0001t0005 a0001c0003t0014 a0008c0012t0035 a0001c0001t0005 a0001c0003t0014 a0008c0012t0035	a0001c0001t0005g0226 a0001c0003t0014g0068 a0001c0003t0014g0071 others(2): Show a0001c0001t0005g0226 a0001c0003t0014g0068 a0001c0003t0014g0071 a0001c0003t0014g0137 a0008c0012t0035g0138	5	388	0.0129	-20	c.207 others(37): Show c.207+5138_207+5157delTGACGGATGGATGGATGGAT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124310493	GGGAGGGG others(13): Show GGGAGGGGGAGGTGGACTGCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0022 a0002c0005t0002g0022	1	388	0.0026	-20	c.208 others(37): Show c.208-1322_208-1303delAGGGGGAGGTGGACTGCAGG	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124314556	GAGCCGGG others(13): Show GAGCCGGGAGCCCTGGGGAGA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 HG03225.hp1 NA18522.hp1 HG02451.hp2 HG03225.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0017 a0001c0002t0019g0220 a0001c0002t0019g0225 a0001c0002t0019g0017 a0001c0002t0019g0220 a0001c0002t0019g0225	3	388	0.0077	-20	c.41 others(27): Show c.41_*60delCCCTGGGGAGAAGCCGGGAG	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	3/3	41	INFO_REALIGN_3_PRIME	chr12	TogoVar
RFTN1_chr3_16310845_16518699	16345813	TGTGTGCG others(13): Show TGTGTGCGCGCGCGCGTGCGC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	268	0.0037	-20	c.114 others(41): Show c.1146+12099_1146+12118delGCGCACGCGCGCGCGCACAC	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	7/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16345816	GTGCGCGC others(13): Show GTGCGCGCGCGCGTGCGCGCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG01109.hp1 others(47): Show HG00408.hp1 HG00438.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01169.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp2 HG01952.hp1 HG01993.hp2 HG02015.hp1 HG02165.hp1 HG02258.hp1 HG02630.hp1 HG02647.hp2 HG02735.hp1 HG03041.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03704.hp1 HG03831.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp2 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18968.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18982.hp2 NA18984.hp2 NA18992.hp2 NA19007.hp2 NA19011.hp2 NA19066.hp1 NA19084.hp2 NA20805.hp2 NA21309.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0001c0002 a0001c0009 others(4): Show a0001c0001 a0001c0002 a0001c0009 a0001c0014 a0003c0004 a0003c0007 a0010c0015	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(5): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0009t0001 a0001c0014t0001 a0003c0004t0001 a0003c0007t0007 a0010c0015t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0041 others(47): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0002t0002g0179 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0229 a0001c0002t0005g0058 a0001c0002t0005g0093 a0001c0002t0005g0143 a0001c0002t0005g0237 a0001c0009t0001g0110 a0001c0014t0001g0018 a0003c0004t0001g0015 a0003c0004t0001g0030 a0003c0004t0001g0032 a0003c0007t0007g0172 a0010c0015t0001g0157	50	268	0.1866	-20	c.114 others(41): Show c.1146+12096_1146+12115delTGCGCGCACGCGCGCGCGCA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	7/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16345824	GCGCGTGC others(13): Show GCGCGTGCGCGCACGCGCACA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02559.hp1 HG01256.hp1 HG02559.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0003 a0001c0002t0002 a0002c0003t0003	a0001c0002t0002g0054 a0002c0003t0003g0011 a0001c0002t0002g0054 a0002c0003t0003g0011	2	268	0.0075	-20	c.114 others(41): Show c.1146+12088_1146+12107delTGTGCGCGTGCGCGCACGCG	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	7/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16410212	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00597.hp1 others(70): Show HG00099.hp2 HG00438.hp1 HG00597.hp1 HG00735.hp2 HG01069.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02056.hp2 HG02074.hp1 HG02257.hp1 HG02273.hp1 HG02630.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03098.hp2 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03579.hp2 HG03710.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18964.hp1 NA18966.hp2 NA18977.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA19004.hp2 NA19007.hp2 NA19043.hp2 NA19066.hp1 NA19070.hp1 NA19082.hp1 NA19084.hp2 NA19087.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0010	a0001c0001 a0001c0002 a0001c0009 others(3): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003 a0008c0011 a0010c0015	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(8): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0009t0001 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0006 a0008c0011t0001 a0010c0015t0001	a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0044 others(70): Show a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0092 a0001c0001t0001g0107 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0263 a0001c0002t0002g0033 a0001c0002t0002g0077 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0096 a0001c0002t0002g0131 a0001c0002t0002g0156 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0229 a0001c0002t0002g0254 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0264 a0001c0002t0002g0266 a0001c0002t0005g0214 a0001c0002t0008g0152 a0001c0002t0008g0182 a0001c0009t0001g0110 a0002c0003t0001g0109 a0002c0003t0001g0134 a0002c0003t0003g0049 a0002c0003t0003g0166 a0002c0003t0003g0175 a0002c0003t0003g0197 a0002c0003t0003g0246 a0002c0003t0003g0262 a0002c0003t0004g0036 a0002c0003t0004g0082 a0002c0003t0004g0104 a0002c0003t0004g0105 a0002c0003t0004g0106 a0002c0003t0004g0108 a0002c0003t0004g0170 a0002c0003t0006g0165 a0002c0003t0006g0167 a0002c0003t0006g0169 a0008c0011t0001g0151 a0010c0015t0001g0157	73	268	0.2724	-20	c.333 others(35): Show c.333-749_333-730delGTGTGTGTGTGTGTGTGTGT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16416340	GAGCCCCG others(13): Show GAGCCCCGTTAAGTTTTAAAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02559.hp1 HG03471.hp1 others(4): Show HG01109.hp1 HG02559.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 NA18522.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0002 a0002c0003t0003 others(2): Show a0001c0001t0001 a0001c0002t0002 a0002c0003t0003 a0002c0003t0009 a0002c0003t0010	a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0002t0002g0179 others(4): Show a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0002t0002g0179 a0002c0003t0003g0011 a0002c0003t0003g0177 a0002c0003t0009g0178 a0002c0003t0010g0247	7	268	0.0261	-20	c.333 others(37): Show c.333-6877_333-6858delTTTTAAAACTTAACGGGGCT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16438585	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA19070.hp1 NA19087.hp2 NA18986.hp2 NA19070.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0008 a0001c0001t0001 a0001c0002t0008	a0001c0001t0001g0153 a0001c0002t0008g0152 a0001c0002t0008g0182 a0001c0001t0001g0153 a0001c0002t0008g0152 a0001c0002t0008g0182	3	268	0.0112	-20	c.146 others(37): Show c.146-4568_146-4549delTTTTTTTTTTTTTTTTTTTT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	2/9			chr3	TogoVar
RFTN2_chr2_197563224_197680587	197625663	TCTCTCCT others(13): Show TCTCTCCTCTCCTCTCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0223	1	312	0.0032	-20	c.928 others(37): Show c.928+5328_928+5347delGAGAGGAGAGGAGAGGAGAG	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding	5/8			chr2	TogoVar
RFX1_chr19_13956530_14011320	13970661	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG04228.hp1 HG03942.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0157 a0001c0001t0001g0165	2	280	0.0071	-20	c.131 others(37): Show c.1315-506_1315-487delTTTTTTTTTTTTTTTTTTTT	RFX1	ENSG00000132005.9	transcript	ENST00000254325.9	protein_coding	9/20			chr19	TogoVar
RFX1_chr19_13956530_14011320	13994893	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19240.hp2 HG03130.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0030 a0001c0001 a0002c0030	a0001c0001t0006 a0002c0030t0027 a0001c0001t0006 a0002c0030t0027	a0001c0001t0006g0140 a0002c0030t0027g0264 a0001c0001t0006g0140 a0002c0030t0027g0264	2	280	0.0071	-20	c.-52 others(36): Show c.-52-1018_-52-999delATATATATATATATATATAT	RFX1	ENSG00000132005.9	transcript	ENST00000254325.9	protein_coding	1/20			chr19	TogoVar
RFX2_chr19_5988164_6115500	6096430	TTTTTGTT others(13): Show TTTTTGTTTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02622.hp2 others(10): Show HG01884.hp2 HG01891.hp2 HG02622.hp2 HG02647.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp2 HG03195.hp2 HG03225.hp2 HG03516.hp1 HG03540.hp2 NA18906.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0004c0009 a0001c0004 a0004c0009	a0001c0004t0001 a0004c0009t0002 a0001c0004t0001 a0004c0009t0002	a0001c0004t0001g0012 a0001c0004t0001g0276 a0001c0004t0001g0277 others(10): Show a0001c0004t0001g0012 a0001c0004t0001g0276 a0001c0004t0001g0277 a0001c0004t0001g0278 a0001c0004t0001g0279 a0001c0004t0001g0280 a0001c0004t0001g0281 a0001c0004t0001g0282 a0001c0004t0001g0283 a0001c0004t0001g0292 a0001c0004t0001g0293 a0001c0004t0001g0294 a0004c0009t0002g0284	13	308	0.0422	-20	c.-9+ others(37): Show c.-9+13943_-9+13962delCAAAACAAAACAAAACAAAA	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6106230	CCCATCCA others(13): Show CCCATCCATCCATCCATCCAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02630.hp1 others(3): Show HG02055.hp2 HG02109.hp2 HG02630.hp1 HG02809.hp1 HG03139.hp1 HG03486.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0005 a0006c0010t0005 a0001c0001t0005 a0006c0010t0005	a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0304 others(3): Show a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0306 a0001c0001t0005g0307 a0006c0010t0005g0305	6	308	0.0195	-20	c.-9+ others(35): Show c.-9+4143_-9+4162delATGGATGGATGGATGGATGG	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX3_chr9_3213297_3531001	3270081	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00438.hp2 others(120): Show HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00639.hp2 HG00673.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01891.hp1 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18983.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19058.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19076.hp1 NA19076.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0035 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0001t0071 a0001c0002t0009 a0001c0003t0004 a0001c0005t0010 a0001c0007t0002 a0002c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0014 others(120): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0087 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0026 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0093 a0001c0001t0002g0112 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0158 a0001c0001t0002g0162 a0001c0001t0003g0141 a0001c0001t0003g0182 a0001c0001t0004g0032 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0066 a0001c0001t0004g0071 a0001c0001t0004g0075 a0001c0001t0004g0090 a0001c0001t0004g0095 a0001c0001t0004g0103 a0001c0001t0005g0030 a0001c0001t0005g0153 a0001c0001t0006g0007 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0094 a0001c0001t0006g0164 a0001c0001t0010g0021 a0001c0001t0010g0105 a0001c0001t0010g0168 a0001c0001t0011g0040 a0001c0001t0011g0041 a0001c0001t0011g0185 a0001c0001t0014g0088 a0001c0001t0014g0096 a0001c0001t0015g0070 a0001c0001t0015g0073 a0001c0001t0015g0083 a0001c0001t0016g0069 a0001c0001t0021g0108 a0001c0001t0021g0148 a0001c0001t0022g0029 a0001c0001t0022g0062 a0001c0001t0024g0114 a0001c0001t0024g0147 a0001c0001t0027g0109 a0001c0001t0028g0061 a0001c0001t0035g0139 a0001c0001t0044g0143 a0001c0001t0045g0181 a0001c0001t0047g0082 a0001c0001t0049g0016 a0001c0001t0050g0031 a0001c0001t0054g0163 a0001c0001t0055g0146 a0001c0001t0056g0183 a0001c0001t0057g0068 a0001c0001t0058g0179 a0001c0001t0059g0018 a0001c0001t0060g0013 a0001c0001t0061g0046 a0001c0001t0062g0059 a0001c0001t0064g0124 a0001c0001t0065g0127 a0001c0001t0067g0187 a0001c0001t0068g0188 a0001c0001t0070g0190 a0001c0001t0071g0191 a0001c0002t0009g0009 a0001c0002t0009g0010 a0001c0002t0009g0011 a0001c0002t0009g0034 a0001c0003t0004g0135 a0001c0005t0010g0178 a0001c0007t0002g0177 a0002c0006t0001g0173	123	196	0.6276	-20	c.135 others(37): Show c.1357+270_1357+289delTTTCTTTCTTTCTTTCTTTC	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	11/16			chr9	TogoVar

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