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	status	chr	external
NID2_chr14_51999809_52074059	52035856	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01978.hp1 HG02615.hp2 others(6): Show HG01361.hp1 HG01978.hp1 HG02615.hp2 HG02723.hp2 HG03098.hp1 HG03130.hp1 NA18941.hp1 NA18957.hp1 NA19068.hp2	a0002 a0004 a0025 others(1): Show a0002 a0004 a0025 a0027	a0002c0004 a0002c0044 a0004c0006 others(3): Show a0002c0004 a0002c0044 a0004c0006 a0004c0012 a0025c0059 a0027c0067	a0002c0004t0001 a0002c0044t0001 a0004c0006t0001 others(3): Show a0002c0004t0001 a0002c0044t0001 a0004c0006t0001 a0004c0012t0002 a0025c0059t0001 a0027c0067t0002	a0002c0004t0001g0039 a0002c0004t0001g0040 a0002c0004t0001g0163 others(6): Show a0002c0004t0001g0039 a0002c0004t0001g0040 a0002c0004t0001g0163 a0002c0004t0001g0184 a0002c0044t0001g0156 a0004c0006t0001g0328 a0004c0012t0002g0304 a0025c0059t0001g0352 a0027c0067t0002g0308	9	372	0.0242	24	c.225 others(43): Show c.2257+2890_2257+2891insTATATATATATATATATATATATA	NID2	ENSG00000087303.19	transcript	ENST00000216286.10	protein_coding	9/21		chr14	TogoVar
NID2_chr14_51999809_52074059	52035865	T T	TATGTGTA others(17): Show TATGTGTATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19240.hp1 HG02257.hp1 NA19240.hp1	a0002 a0004 a0002 a0004	a0002c0039 a0004c0055 a0002c0039 a0004c0055	a0002c0039t0001 a0004c0055t0001 a0002c0039t0001 a0004c0055t0001	a0002c0039t0001g0086 a0004c0055t0001g0299 a0002c0039t0001g0086 a0004c0055t0001g0299	2	372	0.0054	24	c.225 others(43): Show c.2257+2881_2257+2882insGTATATATATATATATATACACAT	NID2	ENSG00000087303.19	transcript	ENST00000216286.10	protein_coding	9/21		chr14	TogoVar
NID2_chr14_51999809_52074059	52035878	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0350 a0008c0013t0001g0350	1	372	0.0027	24	c.225 others(43): Show c.2257+2868_2257+2869insAATATATATATATATATATATATA	NID2	ENSG00000087303.19	transcript	ENST00000216286.10	protein_coding	9/21		chr14	TogoVar
NIM1K_chr5_43187225_43285850	43198207	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCCTTCTT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	292	0.0034	24	c.-69 others(43): Show c.-695+5814_-695+5815insCTTCTTTCTTTCTTTCTTTCTTTC	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43198207	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	292	0.0034	24	c.-69 others(43): Show c.-695+5814_-695+5837dupCTTTCTTTCTTTCTTTCTTTCTTT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43198207	C C	CTTTCTCT others(17): Show CTTTCTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	292	0.0034	24	c.-69 others(43): Show c.-695+5797_-695+5798insTTCTCTTTCTTTCTTTCTTTCTTT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43198207	C C	CTTTCTTT others(17): Show CTTTCTTTCTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	292	0.0034	24	c.-69 others(43): Show c.-695+5797_-695+5798insTTCTTTCTCTTTCTTTCTTTCTTT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43253212	A A	ATAATATA others(17): Show ATAATATAATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18964.hp1 NA19088.hp1 NA18963.hp1 NA18964.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228	3	292	0.0103	24	c.292 others(41): Show c.292+7146_292+7147insAATATAATATATGTGTGTGTGTGT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	2/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
NINJ2_chr12_559296_668445	611263	T T	TTCTCTCT others(17): Show TTCTCTCTCTCTTTCTTTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp1 HG03098.hp2 others(2): Show HG02615.hp1 HG02717.hp1 HG03098.hp2 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0002 a0001c0001t0002 a0001c0007t0002	a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 others(2): Show a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0258 a0001c0007t0002g0178	5	404	0.0124	24	c.34- others(41): Show c.34-45086_34-45085insGAGAGAGAAAGAAAGAGAGAGAGA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3		chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03704.hp2 NA18982.hp1 others(2): Show HG02071.hp1 HG03704.hp2 NA18982.hp1 NA18999.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0098 a0001c0001t0001g0332 a0001c0001t0001g0350 others(2): Show a0001c0001t0001g0098 a0001c0001t0001g0332 a0001c0001t0001g0350 a0001c0001t0001g0354 a0001c0001t0002g0007	5	404	0.0124	24	c.33+ others(41): Show c.33+33431_33+33432insATATTTTTTTTTTTTTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3		chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01255.hp2 HG01943.hp2 others(3): Show HG01099.hp2 HG01255.hp2 HG01943.hp2 NA18941.hp1 NA18949.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0356 others(3): Show a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0356 a0001c0001t0002g0210 a0001c0001t0002g0233 a0001c0001t0002g0322	6	404	0.0149	24	c.33+ others(41): Show c.33+33431_33+33432insATATATTTTTTTTTTTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3		chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA18747.hp1 NA18951.hp1 others(1): Show HG02148.hp1 NA18747.hp1 NA18951.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0165 a0001c0001t0001g0330 a0001c0001t0001g0355 others(1): Show a0001c0001t0001g0165 a0001c0001t0001g0330 a0001c0001t0001g0355 a0001c0001t0002g0190	4	404	0.0099	24	c.33+ others(41): Show c.33+33431_33+33432insATATATATTTTTTTTTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3		chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA18944.hp2 NA18994.hp1 others(1): Show HG02273.hp1 NA18944.hp2 NA18994.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0215 a0001c0001t0001g0216 others(1): Show a0001c0001t0001g0167 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0344	4	404	0.0099	24	c.33+ others(41): Show c.33+33431_33+33432insATATATATATTTTTTTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3		chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03098.hp1 HG03017.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0380 a0001c0001t0002g0111 a0001c0001t0001g0380 a0001c0001t0002g0111	2	404	0.0050	24	c.33+ others(41): Show c.33+33431_33+33432insATATATATATATTTTTTTTTTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3		chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0373 a0001c0001t0002g0373	1	404	0.0025	24	c.33+ others(41): Show c.33+33431_33+33432insATATATATATATATATATATTTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3		chr12	TogoVar
NINJ2_chr12_559296_668445	634265	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01099.hp1 HG01934.hp1 others(3): Show HG00558.hp2 HG01099.hp1 HG01934.hp1 NA18946.hp1 NA19070.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0041 others(3): Show a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0269 a0001c0001t0001g0270	6	404	0.0149	24	c.33+ others(41): Show c.33+29039_33+29062dupAAAAAAAAAAAAAAAAAAAAAAAA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3		chr12	TogoVar
NINJ2_chr12_559296_668445	648977	C C	CCTATCTA others(17): Show CCTATCTATCTATCTGTCTATCTGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0378 a0001c0001t0001g0378	1	404	0.0025	24	c.33+ others(41): Show c.33+14350_33+14351insACAGATAGACAGATAGATAGATAG	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3		chr12	TogoVar
NINJ2_chr12_559296_668445	648980	A A	ATCTATCT others(17): Show ATCTATCTATCTGTCTATCTGTCTG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02723.hp1 HG03490.hp1 others(1): Show HG02040.hp2 HG02723.hp1 HG03490.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0092 a0001c0001t0001g0114 a0001c0001t0002g0086 others(1): Show a0001c0001t0001g0092 a0001c0001t0001g0114 a0001c0001t0002g0086 a0001c0001t0002g0363	4	404	0.0099	24	c.33+ others(41): Show c.33+14347_33+14348insCAGACAGATAGACAGATAGATAGA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3		chr12	TogoVar
NINJ2_chr12_559296_668445	649531	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01981.hp2 HG02257.hp1 others(7): Show HG00738.hp1 HG01981.hp2 HG02257.hp1 HG02523.hp2 HG02723.hp1 NA18948.hp1 NA18953.hp1 NA18961.hp2 NA18969.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(7): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0078 a0001c0001t0001g0292 a0001c0001t0001g0297 a0001c0001t0001g0304 a0001c0001t0001g0312 a0001c0001t0002g0363 a0001c0001t0004g0275	10	404	0.0248	24	c.33+ others(41): Show c.33+13796_33+13797insTATATATATATATATATATATATA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3		chr12	TogoVar
NINJ2_chr12_559296_668445	649531	G G	GTATGTAT others(17): Show GTATGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	404	0.0025	24	c.33+ others(41): Show c.33+13796_33+13797insTATATATATATATATATATACATA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3		chr12	TogoVar
NIPA1_chr15_22781644_22834789	22807782	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01168.hp1 HG02083.hp1 others(4): Show HG01106.hp2 HG01168.hp1 HG02083.hp1 HG02735.hp1 HG03098.hp1 HG06807.hp1 NA19004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0005	a0001c0001t0002 a0001c0002t0041 a0002c0003t0003 others(4): Show a0001c0001t0002 a0001c0002t0041 a0002c0003t0003 a0002c0003t0005 a0002c0004t0006 a0002c0004t0007 a0002c0005t0019	a0001c0001t0002g0199 a0001c0002t0041g0100 a0002c0003t0003g0192 others(4): Show a0001c0001t0002g0199 a0001c0002t0041g0100 a0002c0003t0003g0192 a0002c0003t0005g0244 a0002c0004t0006g0200 a0002c0004t0007g0209 a0002c0005t0019g0236	7	400	0.0175	24	c.179 others(41): Show c.179-2945_179-2944insTGTGTGTGTGTGTGTGTGTGTGTG	NIPA1	ENSG00000170113.16	transcript	ENST00000337435.9	protein_coding	1/4	INFO_REALIGN_3_PRIME	chr15	TogoVar
NIPA1_chr15_22781644_22834789	22808679	C C	CTTAATAT others(17): Show CTTAATATTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	400	0.0025	24	c.179 others(41): Show c.179-2068_179-2067insAATATTCTTTTTTTTTTTTTTTTT	NIPA1	ENSG00000170113.16	transcript	ENST00000337435.9	protein_coding	1/4	INFO_REALIGN_3_PRIME	chr15	TogoVar
NIPAL2_chr8_98184826_98299235	98259069	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0087 a0001c0002t0005g0087	1	332	0.0030	24	c.136 others(41): Show c.136-4983_136-4982insAAAAAAAAAAAAAAAAAAAAAAAA	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10		chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98280736	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0141	1	332	0.0030	24	c.135 others(43): Show c.135+13243_135+13266dupTATATATATATATATATATATATA	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10		chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(17): Show TATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0204 a0001c0001t0004g0204	1	332	0.0030	24	c.135 others(43): Show c.135+13241_135+13242insCTCTCTCTCTCTCTCTCTATATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10		chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(17): Show TATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0256 a0001c0002t0001g0256	1	332	0.0030	24	c.135 others(43): Show c.135+13241_135+13242insCTCTCTCTCTCTCTCTATATATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10		chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(17): Show TATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02523.hp2 HG03669.hp2 HG01123.hp1 HG02523.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0122 a0001c0002t0001g0140 a0001c0002t0001g0186 a0001c0001t0004g0122 a0001c0002t0001g0140 a0001c0002t0001g0186	3	332	0.0090	24	c.135 others(43): Show c.135+13241_135+13242insCTCTCTCTCTCTCTATATATATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10		chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(17): Show TATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19072.hp1 HG02258.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0040 a0001c0001t0004g0165 a0001c0001t0003g0040 a0001c0001t0004g0165	2	332	0.0060	24	c.135 others(43): Show c.135+13241_135+13242insCTCTCTCTCTCTATATATATATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10		chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(17): Show TATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03491.hp2 NA18953.hp1 others(1): Show HG01358.hp2 HG03491.hp2 NA18953.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0015 a0001c0002t0020 a0001c0001t0002 a0001c0001t0015 a0001c0002t0020	a0001c0001t0002g0124 a0001c0001t0002g0243 a0001c0001t0015g0182 others(1): Show a0001c0001t0002g0124 a0001c0001t0002g0243 a0001c0001t0015g0182 a0001c0002t0020g0309	4	332	0.0121	24	c.135 others(43): Show c.135+13241_135+13242insCTCTCTCTCTATATATATATATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10		chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(17): Show TATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02257.hp1 HG03540.hp1 others(1): Show HG00738.hp1 HG02257.hp1 HG03540.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0002g0125 a0001c0001t0003g0290 a0001c0001t0004g0116 others(1): Show a0001c0001t0002g0125 a0001c0001t0003g0290 a0001c0001t0004g0116 a0001c0002t0001g0308	4	332	0.0121	24	c.135 others(43): Show c.135+13241_135+13242insCTCTCTCTATATATATATATATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10		chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(17): Show TATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03688.hp1 HG00733.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0026 a0001c0001t0004 a0001c0001t0026	a0001c0001t0004g0198 a0001c0001t0026g0145 a0001c0001t0004g0198 a0001c0001t0026g0145	2	332	0.0060	24	c.135 others(43): Show c.135+13241_135+13242insCTCTCTATATATATATATATATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10		chr8	TogoVar
NIPBL_chr5_36871769_37071413	36952053	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0260 a0001c0002t0001g0260	1	328	0.0031	24	c.-79 others(41): Show c.-79-1564_-79-1563insTGTGTGTGTGTGCGCGCGCGCGCG	NIPBL	ENSG00000164190.19	transcript	ENST00000282516.13	protein_coding	1/46	INFO_REALIGN_3_PRIME	chr5	TogoVar
NIPBL_chr5_36871769_37071413	36952053	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0165 a0002c0003t0003g0165	1	328	0.0031	24	c.-79 others(41): Show c.-79-1564_-79-1563insTGTGTGTGTGTGTGTGCGCGCGCG	NIPBL	ENSG00000164190.19	transcript	ENST00000282516.13	protein_coding	1/46	INFO_REALIGN_3_PRIME	chr5	TogoVar
NIPBL_chr5_36871769_37071413	36952053	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19065.hp2 HG02572.hp1 NA19065.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0123 a0002c0003t0001g0313 a0002c0003t0001g0123 a0002c0003t0001g0313	2	328	0.0061	24	c.-79 others(41): Show c.-79-1564_-79-1563insTGTGTGTGTGTGTGTGTGCGCGCG	NIPBL	ENSG00000164190.19	transcript	ENST00000282516.13	protein_coding	1/46	INFO_REALIGN_3_PRIME	chr5	TogoVar
NIPBL_chr5_36871769_37071413	37033705	C C	CACACACA others(17): Show CACACACACACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	328	0.0031	24	c.586 others(43): Show c.5863-2673_5863-2672insCACACACACATATATATATATATA	NIPBL	ENSG00000164190.19	transcript	ENST00000282516.13	protein_coding	32/46	INFO_REALIGN_3_PRIME	chr5	TogoVar
NIPBL_chr5_36871769_37071413	37033705	C C	CACACACA others(17): Show CACACACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03486.hp1 HG03130.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0168 a0001c0001t0001g0007 a0001c0001t0001g0168	2	328	0.0061	24	c.586 others(43): Show c.5863-2673_5863-2672insCACACACATATATATATATATATA	NIPBL	ENSG00000164190.19	transcript	ENST00000282516.13	protein_coding	32/46	INFO_REALIGN_3_PRIME	chr5	TogoVar
NKAIN1_chr1_31174745_31244887	31206237	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00621.hp2 others(67): Show HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01070.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02258.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03239.hp1 HG03927.hp1 HG03927.hp2 HG04204.hp2 NA18612.hp2 NA18943.hp2 NA18952.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp2 NA18972.hp1 NA18979.hp2 NA18989.hp1 NA19000.hp1 NA19003.hp2 NA19030.hp2 NA19056.hp1 NA19058.hp1 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19081.hp2 NA19082.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0002c0004t0013	a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 others(67): Show a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0174 a0001c0001t0001g0226 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0268 a0001c0001t0001g0328 a0001c0001t0002g0272 a0001c0001t0003g0023 a0001c0001t0003g0027 a0001c0001t0003g0063 a0001c0001t0003g0175 a0001c0001t0003g0230 a0001c0001t0003g0247 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0273 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0006g0236 a0001c0001t0006g0239 a0001c0001t0008g0169 a0001c0001t0008g0329 a0001c0001t0009g0331 a0001c0001t0009g0332 a0001c0001t0011g0002 a0001c0001t0012g0242 a0001c0001t0017g0338 a0002c0004t0013g0205	70	338	0.2071	24	c.55- others(41): Show c.55-18051_55-18050insATTTATTTATTTATTTATTTATTT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6		chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31216690	T T	TTTTATCT others(17): Show TTTTATCTATTTATCTATTTATCTA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19000.hp1 NA19003.hp2 NA18995.hp1 NA19000.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0058 a0001c0001t0001g0069 a0001c0001t0001g0070	3	338	0.0089	24	c.54+ others(41): Show c.54+22803_54+22804insTAGATAAATAGATAAATAGATAAA	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6		chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31216690	T T	TTTTATCT others(17): Show TTTTATCTATTTATCTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01934.hp2 HG02165.hp2 others(1): Show HG00423.hp2 HG01934.hp2 HG02165.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0087 a0001c0001t0002g0025 a0001c0001t0002g0030 others(1): Show a0001c0001t0001g0087 a0001c0001t0002g0025 a0001c0001t0002g0030 a0001c0001t0003g0164	4	338	0.0118	24	c.54+ others(41): Show c.54+22803_54+22804insTAAATAAATAGATAAATAGATAAA	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6		chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31218016	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0236 a0001c0001t0006g0236	1	338	0.0030	24	c.54+ others(41): Show c.54+21454_54+21477dupGAAAGAAAGAAAGAAAGAAAGAAA	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6		chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232396	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01081.hp1 HG02074.hp2 others(3): Show HG00558.hp1 HG01081.hp1 HG02074.hp2 NA18612.hp1 NA18982.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0002g0034 others(3): Show a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0002g0034 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042	6	338	0.0178	24	c.54+ others(39): Show c.54+7074_54+7097dupATATATATATATATATATATATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6		chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(17): Show TATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01952.hp2 HG03669.hp2 others(2): Show HG01358.hp1 HG01952.hp2 HG03669.hp2 NA18995.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0123 a0001c0001t0002g0130 a0001c0001t0002g0161 others(2): Show a0001c0001t0002g0123 a0001c0001t0002g0130 a0001c0001t0002g0161 a0001c0001t0002g0272 a0001c0001t0003g0271	5	338	0.0148	24	c.54+ others(39): Show c.54+7069_54+7070insCTCTCTCTCTCTCTCTCTATATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6		chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(17): Show TATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA18952.hp2 HG01943.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0328 a0001c0001t0003g0091 a0001c0001t0001g0328 a0001c0001t0003g0091	2	338	0.0059	24	c.54+ others(39): Show c.54+7069_54+7070insCTCTCTCTCTCTCTCTATATATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6		chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(17): Show TATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02080.hp1 HG00597.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0269 a0001c0001t0003g0321 a0001c0001t0003g0269 a0001c0001t0003g0321	2	338	0.0059	24	c.54+ others(39): Show c.54+7069_54+7070insCTCTCTCTCTCTCTATATATATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6		chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(17): Show TATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	338	0.0030	24	c.54+ others(39): Show c.54+7069_54+7070insCTCTCTCTCTCTATATATATATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6		chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(17): Show TATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02074.hp1 NA19002.hp2 others(1): Show HG01168.hp2 HG02074.hp1 NA19002.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0076 a0001c0001t0001g0163 a0001c0001t0002g0075 others(1): Show a0001c0001t0001g0076 a0001c0001t0001g0163 a0001c0001t0002g0075 a0001c0001t0003g0266	4	338	0.0118	24	c.54+ others(39): Show c.54+7069_54+7070insCTCTCTCTCTATATATATATATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6		chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(17): Show TATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18957.hp1 NA19000.hp2 HG04228.hp1 NA18957.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0143 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0002g0143 a0001c0001t0003g0315 a0001c0001t0003g0316	3	338	0.0089	24	c.54+ others(39): Show c.54+7069_54+7070insCTCTCTCTATATATATATATATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6		chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(17): Show TATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03831.hp2 HG04184.hp2 others(1): Show HG00140.hp2 HG03831.hp2 HG04184.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0114 a0001c0001t0001g0221 a0001c0001t0001g0252 others(1): Show a0001c0001t0001g0114 a0001c0001t0001g0221 a0001c0001t0001g0252 a0001c0001t0003g0107	4	338	0.0118	24	c.54+ others(39): Show c.54+7069_54+7070insCTCTCTATATATATATATATATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6		chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(17): Show TATATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	338	0.0030	24	c.54+ others(39): Show c.54+7069_54+7070insCTCTATATATATATATATATATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6		chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(17): Show TATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01167.hp1 NA18990.hp2 HG00597.hp2 HG01167.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0216 a0001c0001t0002g0136 a0001c0001t0002g0192 a0001c0001t0001g0216 a0001c0001t0002g0136 a0001c0001t0002g0192	3	338	0.0089	24	c.54+ others(39): Show c.54+7069_54+7070insCTATATATATATATATATATATAT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6		chr1	TogoVar

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