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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GABRG3_chr15_26966181_27546984	27305865	CATATATA others(135): Show CATATATAATATAAACCTATATGTTTATATATAAACATATATAATATAAA CCTATATGTTTATATATAAACATATATAATATAAACCTATATGTTTATAT ATAAACATATATAATATAAACCTATATGTTTATATATAAACAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG01884.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0019 a0001c0005t0005 a0001c0003t0019 a0001c0005t0005	a0001c0003t0019g0064 a0001c0005t0005g0045 a0001c0003t0019g0064 a0001c0005t0005g0045	2	92	0.0217	-142	c.271 others(19): Show c.271-20938_271-20797del		GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
GAL3ST2_chr2_241771822_241809287	241805898	CTCCCTCC others(135): Show CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 NA18612.hp1 NA18906.hp1 HG03927.hp1 NA18612.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0012 a0001c0001t0001g0201 a0002c0002t0002g0054 a0001c0001t0001g0012 a0001c0001t0001g0201 a0002c0002t0002g0054	3	314	0.0096	-142	c.17 others(11): Show c.1733_*1874del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1612		chr2	TogoVar
GALR1_chr18_77244848_77282900	77259044	CATGGTGG others(135): Show CATGGTGGTGATGATGGTGGTCATGGTGGTCATGGTGGCGATTGTGGTGA TGGTGGTGGATGGTGGTGGTCACAGTGGTGGTGGTGTTGGTGGTGGTCAT GGTGGTCATGGTGGTGATGATGGTGGTGATGATGGTGGTGATG	C C	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19091.hp2 NA19072.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0002t0122 a0001c0001t0015 a0001c0002t0122	a0001c0001t0015g0305 a0001c0002t0122g0214 a0001c0001t0015g0305 a0001c0002t0122g0214	2	366	0.0055	-142	c.732 others(17): Show c.732+2850_732+2991del		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77259124	GTGGTGTT others(135): Show GTGGTGTTGGTGGTGGTCATGGTGGTCATGGTGGTGATGATGGTGGTGAT GATGGTGGTGATGATGGTGGTGATGATGGTGGTCATGGTGGCGATTGTGG TGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGTGGTGT	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02630.hp2 HG01952.hp2 HG02630.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0069 a0002c0003t0020 a0002c0003t0069	a0002c0003t0020g0151 a0002c0003t0069g0133 a0002c0003t0020g0151 a0002c0003t0069g0133	2	366	0.0055	-142	c.732 others(17): Show c.732+2960_732+3101del		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GLB1L3_chr11_134271379_134324564	134308215	CATCACCA others(135): Show CATCACCATCACCACCACCACCATCACCATCACCACCATCACCACCACCA CCACCACCACCACCACCAAATACCACCACCACCACCACCACCACCACTAC CACCACCATCACCATCACCATCACCATCATCACCATCACCACT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA20752.hp2 HG02698.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0155 a0001c0002t0001g0156	2	422	0.0047	-142	c.961 others(17): Show c.961+1009_961+1150del		GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
GOLGA4_chr3_37238271_37371879	37257904	TATATATA others(135): Show TATATATATATGTATGTATATATGTATATATACATACATATATATGTATG TATATATGTATATATACATACATATATATATGTATGTATATATGTATATA TACATACATATATATATGTATGTATATATGTATATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02896.hp2 HG02897.hp2 others(2): Show HG02622.hp1 HG02896.hp2 HG02897.hp2 HG03579.hp1 NA19043.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0010 a0006c0006t0002 a0006c0006t0010	a0006c0006t0002g0001 a0006c0006t0002g0076 a0006c0006t0002g0077 others(1): Show a0006c0006t0002g0001 a0006c0006t0002g0076 a0006c0006t0002g0077 a0006c0006t0010g0078	5	272	0.0184	-142	c.162 others(17): Show c.162+6452_162+6593del		GOLGA4	ENSG00000144674.19	transcript	ENST00000361924.7	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr3	TogoVar
GRP_chr18_59215158_59235771	59234277	GTATATAT others(135): Show GTATATATATAATATAACATATTATACATACCATGGTATATATATAATAT AACATATTATACATACCATGGTATATATATAATATAACATATTATACATA CCATGGTATATATATAATATAACATATTATACATACCATGGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 NA19083.hp2 HG02717.hp2 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0022 a0002c0002t0001g0014 a0001c0001t0001g0022 a0002c0002t0001g0014	2	408	0.0049	-142	c.38 others(11): Show c.3810_*3951del		GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding					3507		chr18	TogoVar
GYG2_chrX_2823930_2887818	2845411	ATATACAC others(135): Show ATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATATTTAT ATACACGTGTGTATGTATATTTATATACACGTGTGTATGTATATTTATAT ACACGTGTGTATGTATATTTATATACACGTGTGTATGTATATT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0051 a0002c0002t0006g0051	1	316	0.0032	-142	c.149 others(17): Show c.149+2062_149+2203del		GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
HACL1_chr3_15555699_15606569	15592549	CATGTGTG others(135): Show CATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATG TACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATA CACATGTACGCACATGTGTGCGTGTATACACATGTACGCACAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01099.hp2 HG01981.hp2 others(16): Show HG00423.hp1 HG01099.hp2 HG01981.hp2 HG01993.hp2 HG02148.hp2 HG02293.hp2 HG02735.hp1 HG03927.hp2 HG04199.hp1 NA18612.hp2 NA18940.hp2 NA18950.hp1 NA18993.hp1 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19060.hp2 NA19076.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0050 a0001c0001t0001g0052 others(15): Show a0001c0001t0001g0004 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0170	19	428	0.0444	-142	c.228 others(16): Show c.228-1011_228-870del		HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16						chr3	TogoVar
HDAC9_chr7_18490749_19007416	18786650	CTTCTTTC others(135): Show CTTCTTTCCTCCCTTCCTCCCTTCCTTCCTTTTTGCTCACATATCCCTTT CTGTGTCCTCGGTTTCTGTTGCATGCGCCTCTTGAGTCTAGCTTTCTTTC CTTCCTTTTCTTTTTTCTCTCTTTCTTTCTTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0026 a0001c0002t0011g0026	1	156	0.0064	-142	c.221 others(19): Show c.2215-6685_2215-6544del		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	16/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
HELZ2_chr20_63553086_63579239	63559398	CAGTCAGG others(135): Show CAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGT CAGGTGGGAGTCAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGA GGAGTCAGGGTCAGATGGGAGTCAGTCAGAGTCAGGTGGGAGG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02970.hp1 HG02622.hp2 HG02970.hp1	a0033 a0033	a0033c0034 a0033c0034	a0033c0034t0002 a0033c0034t0068 a0033c0034t0002 a0033c0034t0068	a0033c0034t0002g0168 a0033c0034t0068g0105 a0033c0034t0002g0168 a0033c0034t0068g0105	2	390	0.0051	-142	c.782 others(16): Show c.7826-170_7826-29del		HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	19/19						chr20	TogoVar
HGFAC_chr4_3436968_3454486	3440632	CCCCCAGG others(135): Show CCCCCAGGGCCCACCATGACCTCCCCCCCAACCCCCAACCCCCCATTCAC CGTGCCCCCAGCACCCACCATGCCTCCACATTCACCGTGCCCCCAGGGCC CACCATGACCTCCCCCCCAACCCCCAACCCCCCATTCACCGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00423.hp2 others(86): Show HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp2 HG01074.hp1 HG01123.hp1 HG01358.hp2 HG01496.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02698.hp2 HG02717.hp1 HG02818.hp2 HG03139.hp1 HG03225.hp2 HG03654.hp1 HG03688.hp1 HG03834.hp1 HG04115.hp2 HG04228.hp2 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18961.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18974.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19003.hp2 NA19009.hp2 NA19011.hp2 NA19056.hp2 NA19058.hp1 NA19067.hp1 NA19067.hp2 NA19074.hp2 NA19076.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19091.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0011 a0013 a0023 a0024	a0001c0001 a0001c0006 a0002c0002 others(9): Show a0001c0001 a0001c0006 a0002c0002 a0002c0014 a0002c0015 a0003c0003 a0003c0007 a0004c0004 a0011c0028 a0013c0060 a0023c0039 a0024c0040	a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 others(9): Show a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 a0002c0014t0001 a0002c0015t0001 a0003c0003t0001 a0003c0007t0001 a0004c0004t0001 a0011c0028t0001 a0013c0060t0001 a0023c0039t0001 a0024c0040t0001	a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0006t0001g0067 others(27): Show a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0006t0001g0067 a0002c0002t0001g0003 a0002c0002t0001g0009 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0024 a0002c0002t0001g0032 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0077 a0002c0002t0001g0110 a0002c0014t0001g0012 a0002c0014t0001g0013 a0002c0014t0001g0074 a0002c0015t0001g0003 a0003c0003t0001g0004 a0003c0003t0001g0089 a0003c0007t0001g0004 a0004c0004t0001g0002 a0011c0028t0001g0012 a0013c0060t0001g0003 a0023c0039t0001g0063 a0024c0040t0001g0003	89	454	0.1960	-142	c.-13 others(11): Show c.-1369_-1228del		HGFAC	ENSG00000109758.9	transcript	ENST00000382774.8	protein_coding					1335		chr4	TogoVar
IL3RA_chrX_1331785_1387689	1366580	GGTGAGCG others(135): Show GGTGAGCGGGGTGCGCGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGAGC CGGGTGCGCGGGGTGAGCGGGGTGAGCCGGGTGCCCCGGGTGAGCGGGGT GCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0060 a0001c0001t0004g0060	1	115	0.0087	-142	c.874 others(17): Show c.874+1346_874+1487del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IPO11_chr5_62407763_62633582	62598407	TCTTTCTT others(135): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTTCTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG00673.hp2 others(7): Show HG00408.hp2 HG00639.hp1 HG00673.hp2 HG02451.hp1 HG02572.hp1 HG02886.hp2 HG02895.hp1 HG02976.hp1 NA19011.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0012 a0001c0001t0001g0325 a0001c0002t0001g0196 others(7): Show a0001c0001t0001g0012 a0001c0001t0001g0325 a0001c0002t0001g0196 a0001c0002t0001g0204 a0001c0002t0001g0227 a0001c0002t0001g0237 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255	10	330	0.0303	-142	c.267 others(19): Show c.2679-3356_2679-3215del		IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29						chr5	TogoVar
KATNIP_chr16_27545144_27785344	27661935	TATATATA others(135): Show TATATATATATATATATATATACACATACATATATATATATATATATATA TACACATACATATATATATATATATATATATACACATACATATATATATA TATATATACACATACATATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03041.hp2 HG03195.hp1 others(1): Show HG02145.hp2 HG03041.hp2 HG03195.hp1 HG03225.hp1	a0004 a0011 a0004 a0011	a0004c0030 a0004c0034 a0011c0017 a0004c0030 a0004c0034 a0011c0017	a0004c0030t0005 a0004c0034t0005 a0011c0017t0005 a0004c0030t0005 a0004c0034t0005 a0011c0017t0005	a0004c0030t0005g0115 a0004c0034t0005g0119 a0011c0017t0005g0150 others(1): Show a0004c0030t0005g0115 a0004c0034t0005g0119 a0011c0017t0005g0150 a0011c0017t0005g0151	4	152	0.0263	-142	c.540 others(19): Show c.540+13212_540+13353del		KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	6/27					INFO_REALIGN_3_PRIME	chr16	TogoVar
KCMF1_chr2_84966161_85064472	85008234	TTATATTA others(135): Show TTATATTATATATGATATATATTATATATCATATATAATATATAATATGA TATATAATATATATAATATATAATATGATATATATATCATATATAATATA TAATATGATATATAATATATAATATATATTATATATCATATGA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00544.hp2 others(54): Show HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp2 HG01106.hp1 HG01517.hp1 HG01993.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02135.hp2 HG02155.hp2 HG02451.hp1 HG02602.hp2 HG02970.hp2 HG03130.hp1 HG03486.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18953.hp2 NA18965.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18978.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18986.hp2 NA18992.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19009.hp2 NA19056.hp2 NA19058.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(9): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0015 a0001c0001t0025 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0064 a0001c0001t0065	a0001c0001t0003g0196 a0001c0001t0003g0198 a0001c0001t0003g0203 others(54): Show a0001c0001t0003g0196 a0001c0001t0003g0198 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0214 a0001c0001t0003g0218 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0254 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0004g0195 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0210 a0001c0001t0004g0213 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0222 a0001c0001t0008g0208 a0001c0001t0008g0212 a0001c0001t0008g0217 a0001c0001t0008g0219 a0001c0001t0008g0255 a0001c0001t0013g0211 a0001c0001t0013g0240 a0001c0001t0013g0241 a0001c0001t0015g0244 a0001c0001t0015g0245 a0001c0001t0015g0246 a0001c0001t0025g0236 a0001c0001t0025g0237 a0001c0001t0056g0200 a0001c0001t0057g0202 a0001c0001t0058g0197 a0001c0001t0059g0199 a0001c0001t0064g0201 a0001c0001t0065g0014	57	274	0.2080	-142	c.17- others(17): Show c.17-19621_17-19480del		KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNC2_chr12_75035078_75214839	75103967	GTAGGTAT others(135): Show GTAGGTATTGTGGTGTGAGTGTTAGGCTACTATTCATCTTCTGATGATGC GTCAGAAGGAGGATCATCTGCTTTGCATGATCCTGGATCATCGAGCCATG ACAATGTCAGGAGACATGATGAGGTGAAGTGAGGTGAGTGGCA	G G	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	316	0.0032	-142	c.688 others(19): Show c.688-52792_688-52651del		KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4						chr12	TogoVar
KCNH4_chr17_42151891_42186142	42163289	AGGGGCCT others(135): Show AGGGGCCTCAGCTGTGCTGCCAGAGTCCTCAATGCCATCCACTATCCTGG GAACAGGGCAGTGCTCATCAGCACCATGGGGTGAGGGTAAGGGCCAGAGC AGAGCAGACAGAGGGGGACTGGGGGCAGCAGTGCCAGGGGGCG	A A	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18939.hp1 NA18939.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0049 a0006c0012t0001g0049	1	326	0.0031	-142	c.247 others(12): Show c.2478-97_2522del	p.Ile others(13): Show p.Ile827_Pro841del	KCNH4	ENSG00000089558.9	transcript	ENST00000264661.4	protein_coding	14/17	2719/3788	2478/3054	826/1017			chr17	TogoVar
LCN15_chr9_136754634_136769518	136769376	CCCGCCAC others(135): Show CCCGCCACCACCCCATGCACTGCCCCCCCCGCCACCCCGCCACCCCCCCA TGCACTTCCCCCCCGCCACCCCGCCACCCCCCATGCACTGCCCCCCCCGA CACCCCGACACCCCCCATGCACTGCCCCCCCGCCACCCCGCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	-142	c.-50 others(11): Show c.-5030_-4889del		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4859		chr9	TogoVar
LRRC27_chr10_132327193_132386508	132358615	GTGGAGCG others(135): Show GTGGAGCGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCG AGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTAGAGCAGTGTGGGG AGGAGCCAAGGTGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02258.hp2 HG03453.hp2 HG02015.hp1 HG02258.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0029 a0001c0001t0001 a0001c0001t0005 a0001c0001t0029	a0001c0001t0001g0066 a0001c0001t0005g0056 a0001c0001t0029g0052 a0001c0001t0001g0066 a0001c0001t0005g0056 a0001c0001t0029g0052	3	290	0.0103	-142	c.117 others(19): Show c.1170+2736_1171-2694del		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358731	GAGCAGCG others(135): Show GAGCAGCGTGGGGAGGAGCCGAGGTGATGGAGCAGTGTGGGGAGGAGCCG AGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGAAGGAGC CGAGCTGGTGGAGCAGCGTAGGGAGGAGCCGAGGTGGTGGAGC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	290	0.0035	-142	c.117 others(19): Show c.1171-2723_1171-2582del		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358806	GAGGTGGT others(135): Show GAGGTGGTGGAGCGTGGGAAGGAGCCGAGCTGGTGGAGCAGCGTAGGGAG GAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGT GTGGGGAGGAGCCGAGGTGGTAGAGCAGTGTGGGGAGGAGCCA	G G	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0214 a0001c0002t0019g0214	1	290	0.0035	-142	c.117 others(19): Show c.1171-2639_1171-2498del		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358957	GAGTGTGG others(135): Show GAGTGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGAAGGAGCCGAGGTGG TGGAGCAGCGTGGGGAGGAGCCGAGGTGATGGAGCAGTGTGGGGAGGAGC CGAGGTGGTGGAGCAGCGTGGGGAGGAGCCGAGGTGATGGAGC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp2 HG03130.hp1 HG01243.hp1 HG02572.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0006 a0001c0001t0005 a0001c0003t0006	a0001c0001t0005g0051 a0001c0001t0005g0053 a0001c0003t0006g0095 a0001c0001t0005g0051 a0001c0001t0005g0053 a0001c0003t0006g0095	3	290	0.0103	-142	c.117 others(19): Show c.1171-2432_1171-2291del		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
MAEA_chr4_1284891_1345137	1333976	GTGCTCAC others(135): Show GTGCTCACCCCTGCACCCATCCCATGCCTACCGTGCTCACCCCCATGCCC ACCCCATGCCCACCATGTGCTCACCCCTGCACCCACCCCCATGCCCGTGT GCTCACCCCTGCACCCATCCCATGCCTACCGTGCTCACCCCCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp2 NA20129.hp1 HG01884.hp2 HG02145.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0158 a0001c0001t0001g0135 a0001c0001t0001g0143 a0001c0001t0001g0158	3	388	0.0077	-142	c.765 others(17): Show c.765+1115_765+1256del		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
MARS1_chr12_57483068_57521652	57493668	TTATATAT others(135): Show TTATATATATTATATATAATATATATTATATATTATAATATATTATATAT TATATATTATATTATATAATATATATTATATACATTATATTATATATATT ATATATAATATATATTATATATTATATATTATATTATATAATG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03098.hp2 NA18906.hp2 HG02109.hp2 HG03098.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175	3	288	0.0104	-142	c.770 others(17): Show c.770+3030_770+3171del		MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20					INFO_REALIGN_3_PRIME	chr12	TogoVar
MBTPS1_chr16_84048763_84121942	84050900	TGCAAGGC others(135): Show TGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAG GAGAGCTGCAAGGCCGGCATGTGGGTAAGGAGAGCTGCAAGGCCGCATGT GGGTAAGGAGAGCTGCAAGGCCCGCATGTGGGTAAGGAGAGCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0244 a0001c0002t0010g0244	1	424	0.0024	-142	c.34 others(11): Show c.3407_*3548del		MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding					2862		chr16	TogoVar
MOV10L1_chr22_50085006_50166687	50147477	TCAGAGGC others(135): Show TCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTC AGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAG AGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGCCCAGCTG	T T	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0004 a0002c0013t0004	a0002c0013t0004g0388 a0002c0013t0004g0388	1	400	0.0025	-142	c.262 others(19): Show c.2627+1675_2627+1816del		MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr22	TogoVar
MYZAP_chr15_57586904_57690364	57687860	TATAATAT others(135): Show TATAATATGTGTGTACAATATACACATATATAATATGTGTGTACAATATA CACATATATAATATGTGTGTACAATATACACATATATAATATGTGTGTAC AATATACACATATATAATGTGTGTACAATATACACATATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	352	0.0028	-142	c.33 others(11): Show c.3363_*3504del		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					2497		chr15	TogoVar
NBEA_chr13_34937270_35677736	35055308	TAAAATAG others(135): Show TAAAATAGATACTTAAAATGCTTTTTGATACCAGTAACTATAAAATGGGC ACTTAATATGAACTCTTTCATTTATTCTTAATAAATATTCCCACATTGTT ATTAAATATATAATTATCCTGGATTTACTAAATCTAAATGGTG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	122	0.0082	-142	c.973 others(15): Show c.973-698_973-557del		NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	6/58					INFO_REALIGN_3_PRIME	chr13	TogoVar
NCAPG2_chr7_158626169_158709804	158667870	CCTTACCC others(135): Show CCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCC TCCGCCCTCCTTACCTACCCTCTGGCCCTCCACCCTCTTACCCACTACTG GGTCCCTCCGCCTTCCTTACCCACTACTGGGTCCCTCCGCCCT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03130.hp2 HG02896.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0219 a0001c0001t0002g0218 a0001c0001t0001g0219 a0001c0001t0002g0218	2	378	0.0053	-142	c.148 others(19): Show c.1480-3262_1480-3121del		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668054	ACTGGGTC others(135): Show ACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTCTGGCCCTCCA CCCTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCGACC	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18612.hp2 NA18941.hp2 HG02083.hp2 NA18612.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0023 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0002g0023 a0001c0001t0004g0021 a0001c0001t0004g0022	3	378	0.0079	-142	c.147 others(19): Show c.1479+3318_1480-3305del		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar
NEU4_chr2_241804193_241822413	241805898	CTCCCTCC others(135): Show CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCA GGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG03927.hp1 NA18906.hp2 others(1): Show HG01346.hp2 HG03927.hp1 NA18906.hp2 NA19003.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0004t0001 a0002c0003t0002 a0001c0001t0001 a0001c0004t0001 a0002c0003t0002	a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0004t0001g0024 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0004t0001g0024 a0002c0003t0002g0029	4	319	0.0125	-142	c.-33 others(11): Show c.-3379_-3238del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3294		chr2	TogoVar
NFIC_chr19_3361583_3474217	3444079	ACGGGGTG others(135): Show ACGGGGTGATGAGGGCCTTTTGTCAAATACAAAGAGGAGGTCAGATGGGC GTGTGTGACAAATGGCTGCTCCGACGGGGTGATGAGGGCCTTTTGTCAAA TAGAGGAGGTCAGATGGGCGTGTGTGACAAATGGCTGCTCCGT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp1 HG01081.hp2 others(11): Show HG00323.hp2 HG00741.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01346.hp1 HG02602.hp2 HG02683.hp1 HG02965.hp1 HG03130.hp2 HG03492.hp1 HG06807.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0030 a0001c0001t0033 others(10): Show a0001c0001t0014 a0001c0001t0030 a0001c0001t0033 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0133 a0001c0001t0135 a0001c0001t0138 a0001c0001t0140 a0001c0001t0141 a0001c0001t0153 a0001c0001t0154	a0001c0001t0014g0018 a0001c0001t0014g0084 a0001c0001t0030g0150 others(11): Show a0001c0001t0014g0018 a0001c0001t0014g0084 a0001c0001t0030g0150 a0001c0001t0033g0015 a0001c0001t0097g0144 a0001c0001t0098g0186 a0001c0001t0099g0249 a0001c0001t0133g0208 a0001c0001t0135g0087 a0001c0001t0138g0294 a0001c0001t0140g0178 a0001c0001t0141g0225 a0001c0001t0153g0168 a0001c0001t0154g0251	14	300	0.0467	-142	c.959 others(17): Show c.959-4904_959-4763del		NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr19	TogoVar
NHLRC4_chr16_562005_574495	571087	GTGTGTGT others(135): Show GTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGT GTGTGTGTCTGGCTAGCCTGGCACCCGTGGCTAGCCTGGCGCCCGTGTGT GTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGTTAGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0001 a0001c0001t0011g0001	1	424	0.0024	-142	c.26 others(11): Show c.2669_*2810del		NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding					1593		chr16	TogoVar
NLRP4_chr19_55831540_55886855	55849852	GACTGCGG others(135): Show GACTGCGGTGTAATTTCCGTGGCCGCGGTGTAATTTCCGTGGCCGGCGGT GTAATTTCCGTAGCCGCGGTGTAATTTCCGTAGCCGCGGTGTAATTTCCG AGACTGCGGTGTAATTTCCGTAGCTGCGGTGTAATTTCCGAGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01358.hp1 HG01496.hp2 others(5): Show HG00738.hp2 HG01358.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01981.hp1 HG02148.hp2 HG02293.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0006 a0003c0007 a0005c0010 a0001c0006 a0003c0007 a0005c0010	a0001c0006t0002 a0003c0007t0002 a0005c0010t0002 a0001c0006t0002 a0003c0007t0002 a0005c0010t0002	a0001c0006t0002g0266 a0003c0007t0002g0270 a0005c0010t0002g0244 others(5): Show a0001c0006t0002g0266 a0003c0007t0002g0270 a0005c0010t0002g0244 a0005c0010t0002g0245 a0005c0010t0002g0247 a0005c0010t0002g0267 a0005c0010t0002g0268 a0005c0010t0002g0269	8	424	0.0189	-142	c.-65 others(17): Show c.-65-2163_-65-2022del		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9						chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993465	CCTCTCTC others(135): Show CCTCTCTCCCCCCTCCCTCCCCCTCTCCCCCCTCCCCTCCTCTCCCCCCT CCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCTCTCCCCTCCTCTCCTCCCCCCTCCTCCTCTCAACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG00741.hp1 others(6): Show HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01258.hp1 HG02738.hp2 HG03927.hp2 HG04115.hp1 NA19068.hp1	a0000 a0001 a0017 a0000 a0001 a0017	a0000c0001 a0000c0002 a0000c0003 others(4): Show a0000c0001 a0000c0002 a0000c0003 a0000c0010 a0000c0065 a0001c0030 a0017c0043	a0000c0001t0001 a0000c0001t0007 a0000c0002t0001 others(6): Show a0000c0001t0001 a0000c0001t0007 a0000c0002t0001 a0000c0002t0004 a0000c0003t0002 a0000c0010t0002 a0000c0065t0038 a0001c0030t0018 a0017c0043t0010	a0000c0001t0001g0062 a0000c0001t0007g0295 a0000c0002t0001g0310 others(6): Show a0000c0001t0001g0062 a0000c0001t0007g0295 a0000c0002t0001g0310 a0000c0002t0004g0002 a0000c0003t0002g0122 a0000c0010t0002g0323 a0000c0065t0038g0316 a0001c0030t0018g0283 a0017c0043t0010g0237	9	350	0.0257	-142	c.55 others(11): Show c.5553_*5694del		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding					4837		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17463794	GAAGAAGG others(135): Show GAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGAAGAAGAAAAGAAGAAGAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	408	0.0025	-142	c.-30 others(11): Show c.-3067_-2926del		NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding					2869		chr19	TogoVar
PDE6B_chr4_620573_675782	635387	CCCTGCCT others(135): Show CCCTGCCTGCCTGCCCGTGTGTTCTGTGCTGTGCGTCCACCTCCTTACCT GCCTGCCTGCCTGCCTGCGTGTTCTGTGCCACGCGTCTGCCTCCCTGCCT GCCTGCCCGTGTGTTCTGTGCTGTGCGTCCACCTCCTTACCTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00621.hp1 others(73): Show HG00099.hp1 HG00423.hp1 HG00621.hp1 HG00735.hp2 HG01099.hp1 HG01346.hp2 HG01433.hp1 HG01517.hp2 HG01884.hp2 HG02004.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03516.hp2 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp2 NA18522.hp2 NA18612.hp1 NA18939.hp2 NA18944.hp2 NA18950.hp2 NA18952.hp2 NA18955.hp1 NA18960.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18989.hp1 NA18991.hp2 NA18994.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19056.hp1 NA19064.hp1 NA19074.hp1 NA19080.hp2 NA19087.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp2	a0001 a0011 a0013 others(3): Show a0001 a0011 a0013 a0014 a0016 a0018	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0017 a0011c0022 a0013c0019 a0014c0018 a0016c0014 a0018c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0004t0001 a0001c0005t0001 a0001c0017t0004 a0011c0022t0003 a0013c0019t0001 a0014c0018t0003 a0016c0014t0002 a0018c0031t0003	a0001c0001t0001g0010 a0001c0001t0001g0056 a0001c0001t0001g0075 others(68): Show a0001c0001t0001g0010 a0001c0001t0001g0056 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0068 a0001c0001t0002g0073 a0001c0001t0002g0080 a0001c0001t0002g0091 a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0051 a0001c0001t0003g0058 a0001c0001t0003g0063 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0004g0065 a0001c0001t0004g0087 a0001c0001t0011g0043 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0084 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0004g0011 a0001c0002t0004g0029 a0001c0002t0004g0088 a0001c0002t0004g0089 a0001c0002t0004g0090 a0001c0004t0001g0031 a0001c0004t0001g0052 a0001c0004t0001g0053 a0001c0004t0001g0064 a0001c0004t0001g0066 a0001c0004t0001g0085 a0001c0004t0001g0092 a0001c0005t0001g0260 a0001c0005t0001g0261 a0001c0017t0004g0030 a0011c0022t0003g0077 a0013c0019t0001g0061 a0014c0018t0003g0067 a0016c0014t0002g0008 a0018c0031t0003g0069	76	308	0.2468	-142	c.622 others(15): Show c.622-476_622-335del		PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
PIGQ_chr16_564968_589109	571087	GTGTGTGT others(135): Show GTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGT GTGTGTGTCTGGCTAGCCTGGCACCCGTGGCTAGCCTGGCGCCCGTGTGT GTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGTTAGCC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0327 a0002c0001t0001g0327	1	408	0.0025	-142	c.-10 others(17): Show c.-10+1011_-10+1152del		PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
PLEKHG4B_chr5_87168_194966	164866	ACAGTAAT others(135): Show ACAGTAATGCTCTGACGGGGCGGAGCTCACACAGTAATGCTGTGACGGGG CGGAGCTCACACTAATGCTGTGACGGGGCGGGGCTTACACACTAATGCTC TGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCAGGGCT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0006 a0006	a0006c0071 a0006c0071	a0006c0071t0018 a0006c0071t0018	a0006c0071t0018g0202 a0006c0071t0018g0202	1	210	0.0048	-142	c.347 others(19): Show c.3476+1321_3476+1462del		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
POMT1_chr9_131497918_131528799	131515728	CCTGTAAC others(135): Show CCTGTAACAGGACACTTCCTCACACGGAGCACTTCCTCTAACATGGAGCA CTTCCTGTAACACAGGACACTTCCTCACACGGAGCACTTCCTCTAACACA GGACACTTCCTCACACGGAGCACTTCCTCACAGGGAGCACTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00733.hp1 others(7): Show HG00099.hp2 HG00639.hp1 HG00733.hp1 HG00741.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01975.hp1 HG03669.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0018 a0001c0001t0004g0038 a0001c0001t0004g0043 others(3): Show a0001c0001t0004g0018 a0001c0001t0004g0038 a0001c0001t0004g0043 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0138	10	334	0.0299	-142	c.127 others(17): Show c.1272+209_1272+350del		POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr9	TogoVar
PRKX_chrX_3599340_3718649	3639231	GGGTGGAT others(135): Show GGGTGGATGGATGAAGGGGTAGGTGGGTGGATGGATGGATGGATGGATGG ATGAAGGGGTGGGGGGGTCGGGGGGTGGATGGATGAAGGGGTGGGGTGGT AGATGGATGAAGGGGTGGGGGTGGATGGATGAAGGGGTGGGGT	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0051 a0001c0001t0044g0051	1	227	0.0044	-142	c.719 others(17): Show c.719+2479_719+2620del		PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8						chrX	TogoVar
PRKX_chrX_3599340_3718649	3639235	GGATGGAT others(135): Show GGATGGATGAAGGGGTAGGTGGGTGGATGGATGGATGGATGGATGGATGA AGGGGTGGGGGGGTCGGGGGGTGGATGGATGAAGGGGTGGGGTGGTAGAT GGATGAAGGGGTGGGGGTGGATGGATGAAGGGGTGGGGTGGTA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00597.hp1 others(51): Show HG00280.hp1 HG00438.hp2 HG00597.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01943.hp1 HG01952.hp1 HG01993.hp1 HG01993.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02257.hp2 HG02723.hp2 HG02735.hp1 HG03491.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 NA18942.hp1 NA18948.hp1 NA18951.hp1 NA18961.hp1 NA18968.hp2 NA18988.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19070.hp1 NA19074.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004 a0002c0012	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(45): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0073 a0001c0001t0087 a0001c0001t0094 a0001c0001t0097 a0001c0001t0098 a0001c0002t0001 a0001c0002t0004 a0001c0002t0007 a0001c0002t0015 a0001c0002t0016 a0001c0002t0018 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0027 a0001c0002t0031 a0001c0002t0039 a0001c0002t0064 a0001c0002t0078 a0001c0002t0083 a0001c0002t0086 a0001c0002t0099 a0001c0002t0102 a0001c0002t0140 a0001c0005t0019 a0002c0003t0010 a0002c0003t0011 a0002c0003t0104 a0002c0003t0115 a0002c0003t0123 a0002c0004t0106 a0002c0004t0110 a0002c0004t0117 a0002c0004t0128 a0002c0004t0132 a0002c0004t0133 a0002c0012t0011	a0001c0001t0001g0067 a0001c0001t0006g0007 a0001c0001t0006g0031 others(51): Show a0001c0001t0001g0067 a0001c0001t0006g0007 a0001c0001t0006g0031 a0001c0001t0007g0150 a0001c0001t0014g0020 a0001c0001t0015g0131 a0001c0001t0018g0111 a0001c0001t0018g0146 a0001c0001t0022g0154 a0001c0001t0023g0135 a0001c0001t0026g0021 a0001c0001t0026g0092 a0001c0001t0028g0114 a0001c0001t0030g0132 a0001c0001t0030g0140 a0001c0001t0073g0029 a0001c0001t0087g0147 a0001c0001t0094g0107 a0001c0001t0097g0148 a0001c0001t0098g0108 a0001c0002t0001g0093 a0001c0002t0004g0003 a0001c0002t0007g0134 a0001c0002t0015g0120 a0001c0002t0016g0119 a0001c0002t0018g0142 a0001c0002t0022g0122 a0001c0002t0022g0123 a0001c0002t0023g0136 a0001c0002t0024g0058 a0001c0002t0027g0097 a0001c0002t0031g0164 a0001c0002t0039g0019 a0001c0002t0064g0100 a0001c0002t0078g0079 a0001c0002t0083g0161 a0001c0002t0086g0139 a0001c0002t0099g0126 a0001c0002t0102g0168 a0001c0002t0140g0225 a0001c0005t0019g0141 a0002c0003t0010g0188 a0002c0003t0010g0189 a0002c0003t0011g0216 a0002c0003t0104g0170 a0002c0003t0115g0186 a0002c0003t0123g0213 a0002c0004t0106g0214 a0002c0004t0110g0212 a0002c0004t0117g0210 a0002c0004t0128g0200 a0002c0004t0132g0203 a0002c0004t0133g0220 a0002c0012t0011g0187	54	227	0.2379	-142	c.719 others(17): Show c.719+2475_719+2616del		PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8						chrX	TogoVar
RGS12_chr4_3288021_3444913	3440632	CCCCCAGG others(135): Show CCCCCAGGGCCCACCATGACCTCCCCCCCAACCCCCAACCCCCCATTCAC CGTGCCCCCAGCACCCACCATGCCTCCACATTCACCGTGCCCCCAGGGCC CACCATGACCTCCCCCCCAACCCCCAACCCCCCATTCACCGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00621.hp1 others(38): Show HG00099.hp2 HG00423.hp2 HG00621.hp1 HG00642.hp1 HG00733.hp2 HG01074.hp2 HG01358.hp2 HG01496.hp1 HG01891.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp2 HG02027.hp2 HG02074.hp2 HG02132.hp2 HG02717.hp1 HG02818.hp2 HG03139.hp1 HG03225.hp1 HG03834.hp2 HG04115.hp1 HG04228.hp2 NA18939.hp2 NA18945.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18965.hp2 NA18966.hp2 NA18975.hp1 NA18980.hp2 NA18982.hp2 NA18990.hp2 NA19009.hp2 NA19011.hp2 NA19080.hp1 NA19091.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0012 a0013 a0015	a0001c0002 a0001c0003 a0001c0004 others(12): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0010 a0001c0021 a0001c0023 a0002c0018 a0002c0029 a0003c0049 a0004c0008 a0007c0024 a0012c0036 a0013c0045 a0015c0039	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(13): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0007t0001 a0001c0007t0003 a0001c0010t0001 a0001c0021t0006 a0001c0023t0001 a0002c0018t0001 a0002c0029t0001 a0003c0049t0001 a0004c0008t0001 a0007c0024t0001 a0012c0036t0001 a0013c0045t0001 a0015c0039t0001	a0001c0002t0001g0019 a0001c0002t0001g0136 a0001c0002t0001g0145 others(37): Show a0001c0002t0001g0019 a0001c0002t0001g0136 a0001c0002t0001g0145 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0183 a0001c0002t0001g0188 a0001c0002t0001g0192 a0001c0002t0001g0250 a0001c0003t0001g0107 a0001c0003t0001g0289 a0001c0003t0001g0293 a0001c0003t0001g0294 a0001c0003t0001g0295 a0001c0003t0001g0301 a0001c0003t0001g0303 a0001c0003t0001g0304 a0001c0003t0001g0305 a0001c0003t0001g0308 a0001c0004t0001g0227 a0001c0007t0001g0024 a0001c0007t0001g0025 a0001c0007t0001g0046 a0001c0007t0001g0073 a0001c0007t0003g0063 a0001c0010t0001g0179 a0001c0021t0006g0047 a0001c0023t0001g0002 a0001c0023t0001g0310 a0002c0018t0001g0044 a0002c0029t0001g0162 a0002c0029t0001g0239 a0003c0049t0001g0253 a0004c0008t0001g0010 a0004c0008t0001g0015 a0007c0024t0001g0281 a0007c0024t0001g0282 a0012c0036t0001g0258 a0013c0045t0001g0166 a0015c0039t0001g0244	41	312	0.1314	-142	c.94 others(10): Show c.949_*1090del		RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding					720		chr4	TogoVar
RGS22_chr8_99955936_100111049	100051817	ATATATTT others(135): Show ATATATTTATATATAAATGTTTATATATTTATATATTTATATATAAATGT TTATATATTTATATATTTATATATAAATGTTTATATATTTATATATTTAT ATATAAATGTTTATATATATTTATATATTTATATATAAATGTT	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0009 a0001c0003t0001g0009	1	310	0.0032	-142	c.168 others(17): Show c.1689+843_1689+984del		RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	10/27						chr8	TogoVar
SAP130_chr2_127936222_128033059	127973372	ACAGGCAT others(135): Show ACAGGCATGCGCCACCACGCTCGGCTAATTTTGTATTTTTAGTAGAGAGG GGGTTTCTCCATGTTGGTCAGGCCGATCTCAAACTCCTGACCTCGGGTGA TCCGCCCGCCTGACTCCCAAAGTCCGAGGGAGTGCTGGGATTC	A A	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	350	0.0029	-142	c.206 others(19): Show c.2063+4471_2063+4612del		SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	15/20						chr2	TogoVar
SCAMP5_chr15_74990563_75026495	74990984	CTCTTTCT others(135): Show CTCTTTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	1	370	0.0027	-142	c.-47 others(11): Show c.-4737_-4596del		SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding					4578		chr15	TogoVar
SCGB1C2_chr17_132569_144067	141172	CTTGGTGA others(135): Show CTTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAG GGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGA GGGGACATAGGGGGGCCTTGGTGAGGGGACATGGGGGGGACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG02071.hp2 HG02080.hp2 others(17): Show HG00280.hp1 HG02071.hp2 HG02080.hp2 HG02615.hp2 HG02723.hp1 HG03927.hp1 NA18522.hp1 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18973.hp2 NA18974.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18994.hp2 NA18998.hp1 NA19003.hp2 NA19005.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007	20	402	0.0498	-142	c.22 others(11): Show c.2231_*2372del		SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding					2106		chr17	TogoVar
SCHIP1_chr3_159268244_159902359	159626109	GATAGATA others(135): Show GATAGATAGATAGATAGATAGATAGATAGATATATCTAGATATATATATA TATCTAGATATATCTATCTATCTAGATAGATAGATAGATAGATAGATAGA TATATCTAGATATATATATATCTAGATATATCTATCTATCTAT	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18906.hp1 NA19043.hp1 HG03579.hp2 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0036 a0001c0001t0001g0094 a0001c0004t0001g0018 a0001c0001t0001g0036 a0001c0001t0001g0094 a0001c0004t0001g0018	3	100	0.0300	-142	c.64- others(19): Show c.64-138302_64-138161del		SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
SCNN1D_chr1_1275436_1297025	1289491	CCGTGTCT others(135): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0082 a0002c0003t0002g0082	1	290	0.0035	-142	c.166 others(17): Show c.1663-778_1663-637del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar

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