Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

Snpeff annotation impact detail

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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
NAA60_chr16_3438680_3491953	3462086	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00621.hp2 others(63): Show HG00323.hp1 HG00544.hp2 HG00621.hp2 HG00642.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01243.hp1 HG01243.hp2 HG01515.hp2 HG01928.hp1 HG01975.hp2 HG02040.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG03098.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18954.hp2 NA18963.hp2 NA18966.hp2 NA18972.hp1 NA18982.hp2 NA18989.hp2 NA19003.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp2 NA19064.hp2 NA19074.hp1 NA19080.hp1 NA19081.hp2 NA19084.hp2 NA20905.hp1 NA21309.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0003c0005 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0020 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0012 a0001c0002t0014 a0001c0002t0032 a0001c0002t0037 a0001c0007t0002 a0001c0008t0008 a0003c0005t0002 a0004c0004t0012	a0001c0001t0001g0061 a0001c0001t0002g0294 a0001c0001t0008g0316 others(58): Show a0001c0001t0001g0061 a0001c0001t0002g0294 a0001c0001t0008g0316 a0001c0001t0008g0317 a0001c0001t0008g0335 a0001c0001t0011g0254 a0001c0001t0011g0320 a0001c0001t0020g0339 a0001c0002t0002g0005 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0048 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0140 a0001c0002t0002g0142 a0001c0002t0002g0160 a0001c0002t0002g0203 a0001c0002t0002g0234 a0001c0002t0002g0262 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0293 a0001c0002t0002g0295 a0001c0002t0002g0298 a0001c0002t0003g0326 a0001c0002t0006g0076 a0001c0002t0006g0077 a0001c0002t0006g0078 a0001c0002t0006g0081 a0001c0002t0006g0082 a0001c0002t0006g0107 a0001c0002t0006g0323 a0001c0002t0007g0011 a0001c0002t0007g0133 a0001c0002t0007g0134 a0001c0002t0007g0135 a0001c0002t0007g0138 a0001c0002t0007g0139 a0001c0002t0007g0214 a0001c0002t0007g0215 a0001c0002t0007g0216 a0001c0002t0007g0275 a0001c0002t0008g0287 a0001c0002t0010g0333 a0001c0002t0012g0023 a0001c0002t0012g0028 a0001c0002t0014g0136 a0001c0002t0014g0137 a0001c0002t0014g0315 a0001c0002t0032g0005 a0001c0002t0037g0086 a0001c0007t0002g0141 a0001c0008t0008g0269 a0003c0005t0002g0290 a0004c0004t0012g0029	66	376	0.1755	7	c.-7+ others(24): Show c.-7+13559_-7+13565dupAAAAAAA		NAA60	ENSG00000122390.19	transcript	ENST00000407558.9	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr16	TogoVar
NAA80_chr3_50291402_50304405	50304274	C C	CAAAAAAA CAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02897.hp2 HG03654.hp1 others(7): Show HG02257.hp2 HG02897.hp2 HG03654.hp1 NA18967.hp1 NA18999.hp1 NA19066.hp1 NA19085.hp2 NA19088.hp2 NA20300.hp1 NA20752.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0005 a0001c0001 a0010c0005	a0001c0001t0001 a0010c0005t0001 a0001c0001t0001 a0010c0005t0001	a0001c0001t0001g0001 a0010c0005t0001g0015 a0001c0001t0001g0001 a0010c0005t0001g0015	10	378	0.0265	7	c.-52 others(18): Show c.-5278_-5272dupTTTTTTT		NAA80	ENSG00000243477.6	transcript	ENST00000443094.3	protein_coding					4870		chr3	TogoVar
NAAA_chr4_75908660_75946013	75936223	A A	ACTGGTGC ACTGGTGC	frameshift_variant frameshift_variant	HIGH	NA18987.hp2 NA18987.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0099 a0012c0012t0001g0099	1	400	0.0025	7	c.377 others(14): Show c.377_383dupGCACCAG	p.Ser others(5): Show p.Ser128fs	NAAA	ENSG00000138744.16	transcript	ENST00000286733.9	protein_coding	3/11	447/1859	383/1080	128/359			chr4	TogoVar
NAALADL2_chr3_174854334_175815548	175072693	T T	TGGGGGGA TGGGGGGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01255.hp1 HG02258.hp2 others(3): Show HG01074.hp2 HG01255.hp1 HG02258.hp2 HG02451.hp2 HG02717.hp2 NA18906.hp1	a0004 a0006 a0008 others(1): Show a0004 a0006 a0008 a0013	a0004c0002 a0006c0009 a0006c0010 others(2): Show a0004c0002 a0006c0009 a0006c0010 a0008c0018 a0013c0023	a0004c0002t0021 a0004c0002t0026 a0006c0009t0009 others(3): Show a0004c0002t0021 a0004c0002t0026 a0006c0009t0009 a0006c0010t0009 a0008c0018t0001 a0013c0023t0001	a0004c0002t0021g0003 a0004c0002t0026g0011 a0006c0009t0009g0061 others(3): Show a0004c0002t0021g0003 a0004c0002t0026g0011 a0006c0009t0009g0061 a0006c0010t0009g0054 a0008c0018t0001g0043 a0013c0023t0001g0037	6	64	0.0938	7	c.44- others(24): Show c.44-24086_44-24080dupGGGAGGG		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175138887	A A	ATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA21309.hp1 HG03453.hp1 NA21309.hp1	a0002 a0016 a0002 a0016	a0002c0007 a0016c0022 a0002c0007 a0016c0022	a0002c0007t0001 a0016c0022t0001 a0002c0007t0001 a0016c0022t0001	a0002c0007t0001g0064 a0016c0022t0001g0034 a0002c0007t0001g0064 a0016c0022t0001g0034	2	64	0.0313	7	c.545 others(26): Show c.545+41596_545+41597insTATATAT		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13						chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175423028	A A	AAATATAT AAATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG02559.hp2 others(2): Show HG01884.hp2 HG02451.hp1 HG02559.hp2 HG03209.hp1 NA18522.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0014	a0001c0001 a0002c0007 a0004c0002 others(1): Show a0001c0001 a0002c0007 a0004c0002 a0014c0024	a0001c0001t0012 a0001c0001t0030 a0002c0007t0024 others(2): Show a0001c0001t0012 a0001c0001t0030 a0002c0007t0024 a0004c0002t0006 a0014c0024t0003	a0001c0001t0012g0031 a0001c0001t0030g0030 a0002c0007t0024g0049 others(2): Show a0001c0001t0012g0031 a0001c0001t0030g0030 a0002c0007t0024g0049 a0004c0002t0006g0039 a0014c0024t0003g0023	5	64	0.0781	7	c.109 others(28): Show c.1091-24200_1091-24199insATATATA		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175551922	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02258.hp2 HG02300.hp1 others(8): Show HG01169.hp2 HG02258.hp2 HG02300.hp1 HG02559.hp2 HG02717.hp1 HG02809.hp2 HG02922.hp1 HG03225.hp1 HG03579.hp1 NA19043.hp2 NA21309.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0008 a0014	a0001c0001 a0001c0013 a0003c0004 others(6): Show a0001c0001 a0001c0013 a0003c0004 a0003c0005 a0004c0002 a0004c0008 a0005c0006 a0008c0018 a0014c0024	a0001c0001t0031 a0001c0001t0037 a0001c0013t0007 others(8): Show a0001c0001t0031 a0001c0001t0037 a0001c0013t0007 a0003c0004t0003 a0003c0005t0023 a0004c0002t0034 a0004c0008t0002 a0005c0006t0001 a0005c0006t0015 a0008c0018t0001 a0014c0024t0003	a0001c0001t0031g0026 a0001c0001t0037g0038 a0001c0013t0007g0021 others(8): Show a0001c0001t0031g0026 a0001c0001t0037g0038 a0001c0013t0007g0021 a0003c0004t0003g0028 a0003c0005t0023g0045 a0004c0002t0034g0055 a0004c0008t0002g0062 a0005c0006t0001g0057 a0005c0006t0015g0008 a0008c0018t0001g0043 a0014c0024t0003g0023	11	64	0.1719	7	c.165 others(28): Show c.1654-24109_1654-24103dupAAAAAAA		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	9/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175607525	G G	GAATAAAT GAATAAAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp2 HG03209.hp1 others(3): Show HG02922.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 NA18522.hp2 NA18906.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0013 a0004c0002 others(1): Show a0001c0001 a0001c0013 a0004c0002 a0005c0011	a0001c0001t0002 a0001c0001t0030 a0001c0013t0007 others(3): Show a0001c0001t0002 a0001c0001t0030 a0001c0013t0007 a0004c0002t0002 a0004c0002t0026 a0005c0011t0004	a0001c0001t0002g0032 a0001c0001t0030g0030 a0001c0013t0007g0021 others(3): Show a0001c0001t0002g0032 a0001c0001t0030g0030 a0001c0013t0007g0021 a0004c0002t0002g0048 a0004c0002t0026g0011 a0005c0011t0004g0029	6	64	0.0938	7	c.180 others(28): Show c.1801-19765_1801-19764insATAAATA		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	10/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175639318	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01884.hp2 HG02055.hp1 others(1): Show HG01074.hp1 HG01884.hp2 HG02055.hp1 HG02451.hp2	a0001 a0011 a0013 a0001 a0011 a0013	a0001c0001 a0011c0020 a0013c0023 a0001c0001 a0011c0020 a0013c0023	a0001c0001t0002 a0001c0001t0012 a0011c0020t0028 others(1): Show a0001c0001t0002 a0001c0001t0012 a0011c0020t0028 a0013c0023t0001	a0001c0001t0002g0012 a0001c0001t0012g0031 a0011c0020t0028g0001 others(1): Show a0001c0001t0002g0012 a0001c0001t0012g0031 a0011c0020t0028g0001 a0013c0023t0001g0037	4	64	0.0625	7	c.189 others(28): Show c.1896+11946_1896+11952dupTTTTTTT		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175762192	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG00741.hp2 others(21): Show HG00639.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01255.hp1 HG01261.hp2 HG01978.hp2 HG02055.hp2 HG02300.hp2 HG02559.hp1 HG02615.hp1 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 NA18522.hp1 NA18906.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009	a0001c0001 a0002c0003 a0002c0007 others(10): Show a0001c0001 a0002c0003 a0002c0007 a0003c0004 a0003c0005 a0004c0002 a0004c0008 a0005c0006 a0005c0011 a0006c0009 a0006c0010 a0008c0019 a0009c0016	a0001c0001t0003 a0001c0001t0022 a0002c0003t0002 others(21): Show a0001c0001t0003 a0001c0001t0022 a0002c0003t0002 a0002c0003t0004 a0002c0003t0016 a0002c0007t0001 a0002c0007t0038 a0003c0004t0014 a0003c0004t0033 a0003c0004t0036 a0003c0005t0008 a0003c0005t0011 a0003c0005t0023 a0004c0002t0006 a0004c0002t0026 a0004c0008t0010 a0005c0006t0015 a0005c0006t0020 a0005c0011t0001 a0006c0009t0009 a0006c0009t0010 a0006c0010t0009 a0008c0019t0017 a0009c0016t0002	a0001c0001t0003g0015 a0001c0001t0022g0002 a0002c0003t0002g0017 others(21): Show a0001c0001t0003g0015 a0001c0001t0022g0002 a0002c0003t0002g0017 a0002c0003t0004g0046 a0002c0003t0016g0060 a0002c0007t0001g0064 a0002c0007t0038g0063 a0003c0004t0014g0058 a0003c0004t0033g0022 a0003c0004t0036g0047 a0003c0005t0008g0007 a0003c0005t0011g0019 a0003c0005t0023g0045 a0004c0002t0006g0039 a0004c0002t0026g0011 a0004c0008t0010g0036 a0005c0006t0015g0008 a0005c0006t0020g0052 a0005c0011t0001g0053 a0006c0009t0009g0061 a0006c0009t0010g0010 a0006c0010t0009g0054 a0008c0019t0017g0004 a0009c0016t0002g0059	24	64	0.3750	7	c.218 others(26): Show c.2189+6783_2189+6789dupTTTTTTT		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	13/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
NABP1_chr2_191673136_191691943	191674154	C C	CTAAAAAA CTAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02559.hp1 HG02630.hp2 others(5): Show HG01891.hp1 HG02559.hp1 HG02630.hp2 HG02895.hp2 HG02970.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 a0001c0002t0005	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0005g0009 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0005g0009 a0001c0001t0015g0043 a0001c0001t0015g0044 a0001c0002t0005g0009	8	394	0.0203	7	c.-44 others(18): Show c.-4461_-4460insTAAAAAA		NABP1	ENSG00000173559.15	transcript	ENST00000425611.9	protein_coding					3981		chr2	TogoVar
NADK2_chr5_36187589_36246925	36217662	G G	GTTAATCA GTTAATCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(299): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0004 a0003c0007 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0002t0007 a0001c0002t0009 a0001c0002t0017 a0001c0002t0030 a0001c0002t0032 a0001c0003t0007 a0001c0006t0005 a0002c0004t0008 a0002c0004t0017 a0002c0004t0031 a0003c0007t0003 a0004c0008t0050	a0001c0001t0001g0068 a0001c0001t0002g0003 a0001c0001t0002g0007 others(229): Show a0001c0001t0001g0068 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0003g0004 a0001c0001t0003g0015 a0001c0001t0003g0018 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0226 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0004g0005 a0001c0001t0004g0016 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0204 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0254 a0001c0001t0004g0256 a0001c0001t0004g0259 a0001c0001t0004g0261 a0001c0001t0005g0002 a0001c0001t0005g0011 a0001c0001t0005g0107 a0001c0001t0005g0108 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0005g0112 a0001c0001t0005g0119 a0001c0001t0005g0120 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0048 a0001c0001t0006g0271 a0001c0001t0006g0272 a0001c0001t0006g0273 a0001c0001t0006g0275 a0001c0001t0006g0276 a0001c0001t0006g0277 a0001c0001t0006g0278 a0001c0001t0006g0279 a0001c0001t0006g0280 a0001c0001t0006g0281 a0001c0001t0006g0282 a0001c0001t0008g0012 a0001c0001t0008g0139 a0001c0001t0008g0140 a0001c0001t0008g0141 a0001c0001t0008g0142 a0001c0001t0008g0143 a0001c0001t0008g0144 a0001c0001t0008g0145 a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0123 a0001c0001t0010g0124 a0001c0001t0010g0125 a0001c0001t0010g0126 a0001c0001t0011g0235 a0001c0001t0011g0253 a0001c0001t0011g0258 a0001c0001t0011g0260 a0001c0001t0012g0006 a0001c0001t0012g0103 a0001c0001t0013g0010 a0001c0001t0013g0114 a0001c0001t0013g0116 a0001c0001t0014g0150 a0001c0001t0014g0157 a0001c0001t0014g0159 a0001c0001t0014g0175 a0001c0001t0014g0176 a0001c0001t0015g0019 a0001c0001t0015g0269 a0001c0001t0015g0270 a0001c0001t0016g0113 a0001c0001t0016g0115 a0001c0001t0016g0118 a0001c0001t0016g0121 a0001c0001t0017g0122 a0001c0001t0018g0199 a0001c0001t0018g0224 a0001c0001t0018g0229 a0001c0001t0018g0265 a0001c0001t0019g0245 a0001c0001t0019g0248 a0001c0001t0019g0255 a0001c0001t0019g0257 a0001c0001t0020g0049 a0001c0001t0020g0283 a0001c0001t0020g0284 a0001c0001t0023g0128 a0001c0001t0023g0129 a0001c0001t0023g0130 a0001c0001t0024g0211 a0001c0001t0024g0220 a0001c0001t0024g0230 a0001c0001t0027g0032 a0001c0001t0028g0132 a0001c0001t0028g0133 a0001c0001t0034g0127 a0001c0001t0035g0147 a0001c0001t0036g0146 a0001c0001t0037g0177 a0001c0001t0038g0148 a0001c0001t0039g0178 a0001c0001t0040g0182 a0001c0001t0041g0158 a0001c0001t0043g0218 a0001c0001t0044g0202 a0001c0001t0045g0225 a0001c0001t0046g0213 a0001c0001t0047g0228 a0001c0001t0048g0208 a0001c0001t0049g0227 a0001c0001t0051g0232 a0001c0001t0052g0274 a0001c0002t0007g0021 a0001c0002t0007g0062 a0001c0002t0007g0063 a0001c0002t0009g0020 a0001c0002t0009g0051 a0001c0002t0009g0052 a0001c0002t0009g0053 a0001c0002t0009g0054 a0001c0002t0009g0055 a0001c0002t0009g0056 a0001c0002t0009g0058 a0001c0002t0009g0059 a0001c0002t0009g0060 a0001c0002t0009g0061 a0001c0002t0017g0105 a0001c0002t0017g0106 a0001c0002t0030g0057 a0001c0002t0032g0104 a0001c0003t0007g0009 a0001c0003t0007g0031 a0001c0003t0007g0098 a0001c0003t0007g0100 a0001c0003t0007g0101 a0001c0003t0007g0102 a0001c0006t0005g0117 a0002c0004t0008g0134 a0002c0004t0008g0136 a0002c0004t0008g0137 a0002c0004t0017g0135 a0002c0004t0031g0138 a0003c0007t0003g0231 a0004c0008t0050g0241	302	384	0.7865	7	c.781 others(20): Show c.781+85_781+86insTGATTAA		NADK2	ENSG00000152620.13	transcript	ENST00000381937.9	protein_coding	6/11						chr5	TogoVar
NAE1_chr16_66797878_66835976	66814608	A A	AAAAATAC AAAAATAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01175.hp1 HG02165.hp1 others(11): Show HG00673.hp1 HG01175.hp1 HG02165.hp1 NA18948.hp2 NA18959.hp1 NA18960.hp1 NA18967.hp2 NA18973.hp2 NA18979.hp1 NA19003.hp2 NA19011.hp1 NA19012.hp1 NA19087.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0147 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0147 a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0208	14	376	0.0372	7	c.841 others(22): Show c.841-763_841-762insGTATTTT		NAE1	ENSG00000159593.15	transcript	ENST00000290810.8	protein_coding	11/19						chr16	TogoVar
NAGLU_chr17_42531241_42549449	42547657	T T	TATGCGAG TATGCGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02258.hp1 HG01884.hp1 HG02055.hp2 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0002 a0002c0002t0001g0005	3	422	0.0071	7	c.34 others(18): Show c.3419_*3420insATGCGAG		NAGLU	ENSG00000108784.10	transcript	ENST00000225927.7	protein_coding					3209		chr17	TogoVar
NAIP_chr5_70963166_71030339	70963878	C C	CTTTTTTT CTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG01071.hp1 others(5): Show HG00099.hp2 HG00280.hp1 HG01071.hp1 HG01433.hp1 HG01891.hp2 HG06807.hp1 NA18906.hp2 homoSapiens_chm13v2.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0004 a0011c0018 a0001c0001 a0001c0004 a0011c0018	a0001c0001t0001 a0001c0004t0002 a0001c0004t0011 others(1): Show a0001c0001t0001 a0001c0004t0002 a0001c0004t0011 a0011c0018t0002	a0001c0001t0001g0024 a0001c0001t0001g0065 a0001c0004t0002g0125 others(5): Show a0001c0001t0001g0024 a0001c0001t0001g0065 a0001c0004t0002g0125 a0001c0004t0002g0131 a0001c0004t0002g0134 a0001c0004t0011g0139 a0001c0004t0011g0140 a0011c0018t0002g0137	8	141	0.0567	7	c.62 others(18): Show c.6225_*6226insAAAAAAA		NAIP	ENSG00000249437.8	transcript	ENST00000517649.6	protein_coding					4287		chr5	TogoVar
NAIP_chr5_70963166_71030339	70982622	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp2 HG02559.hp2 others(7): Show HG01891.hp1 HG02486.hp2 HG02559.hp2 HG02723.hp2 HG03139.hp2 HG03195.hp1 HG03516.hp2 HG03579.hp2 NA18747.hp1 NA19043.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0009	a0001c0001 a0002c0002 a0006c0014 others(1): Show a0001c0001 a0002c0002 a0006c0014 a0009c0013	a0001c0001t0001 a0002c0002t0007 a0002c0002t0009 others(5): Show a0001c0001t0001 a0002c0002t0007 a0002c0002t0009 a0002c0002t0014 a0002c0002t0029 a0002c0002t0030 a0006c0014t0008 a0009c0013t0009	a0001c0001t0001g0075 a0001c0001t0001g0104 a0002c0002t0007g0113 others(7): Show a0001c0001t0001g0075 a0001c0001t0001g0104 a0002c0002t0007g0113 a0002c0002t0007g0116 a0002c0002t0009g0128 a0002c0002t0014g0003 a0002c0002t0029g0124 a0002c0002t0030g0127 a0006c0014t0008g0120 a0009c0013t0009g0130	10	141	0.0709	7	c.327 others(26): Show c.3274+1146_3274+1152dupAAAAAAA		NAIP	ENSG00000249437.8	transcript	ENST00000517649.6	protein_coding	12/16						chr5	TogoVar
NAIP_chr5_70963166_71030339	70996792	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00544.hp1 others(57): Show HG00099.hp1 HG00280.hp2 HG00544.hp1 HG00741.hp2 HG01071.hp2 HG01106.hp2 HG01168.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp2 HG01975.hp2 HG01981.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp2 HG02723.hp2 HG02735.hp1 HG03139.hp1 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18991.hp1 NA19004.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19060.hp2 NA19077.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0008 a0010	a0001c0001 a0001c0004 a0001c0006 others(7): Show a0001c0001 a0001c0004 a0001c0006 a0001c0011 a0001c0015 a0002c0002 a0003c0005 a0007c0009 a0008c0010 a0010c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0004t0005 a0001c0004t0016 a0001c0004t0024 a0001c0006t0001 a0001c0011t0015 a0001c0015t0001 a0002c0002t0001 a0002c0002t0021 a0003c0005t0001 a0007c0009t0003 a0008c0010t0001 a0010c0016t0001	a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 others(57): Show a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0104 a0001c0001t0002g0136 a0001c0001t0003g0108 a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0010g0001 a0001c0001t0010g0002 a0001c0004t0005g0016 a0001c0004t0005g0017 a0001c0004t0016g0011 a0001c0004t0024g0070 a0001c0006t0001g0067 a0001c0006t0001g0069 a0001c0011t0015g0007 a0001c0015t0001g0025 a0002c0002t0001g0019 a0002c0002t0001g0053 a0002c0002t0001g0076 a0002c0002t0021g0063 a0003c0005t0001g0042 a0003c0005t0001g0046 a0007c0009t0003g0111 a0008c0010t0001g0064 a0010c0016t0001g0034	60	141	0.4255	7	c.102 others(26): Show c.1022+1925_1022+1931dupTTTTTTT		NAIP	ENSG00000249437.8	transcript	ENST00000517649.6	protein_coding	9/16						chr5	TogoVar
NALCN_chr13_101048776_101421508	101060275	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01109.hp2 HG01175.hp1 others(19): Show HG00280.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG02040.hp2 HG02132.hp2 HG02257.hp1 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG03130.hp1 HG03540.hp1 HG03579.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0001c0023 a0001c0025 a0002c0030	a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 a0001c0001t0020 a0001c0002t0002 a0001c0006t0004 a0001c0009t0004 a0001c0023t0004 a0001c0025t0004 a0002c0030t0001	a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0040 others(19): Show a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0040 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0175 a0001c0001t0004g0008 a0001c0001t0004g0050 a0001c0001t0004g0087 a0001c0001t0015g0125 a0001c0001t0020g0176 a0001c0002t0002g0002 a0001c0002t0002g0036 a0001c0002t0002g0048 a0001c0002t0002g0147 a0001c0006t0004g0174 a0001c0009t0004g0046 a0001c0009t0004g0096 a0001c0009t0004g0097 a0001c0023t0004g0052 a0001c0025t0004g0027 a0002c0030t0001g0169	22	176	0.1250	7	c.475 others(24): Show c.4756-315_4756-309dupAAAAAAA		NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	41/43						chr13	TogoVar
NALCN_chr13_101048776_101421508	101070063	G G	GTTCTTTT GTTCTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp1 HG01175.hp2 others(29): Show HG00735.hp1 HG01175.hp1 HG01175.hp2 HG01358.hp2 HG01884.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02602.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02970.hp1 HG03098.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG06807.hp1 NA18906.hp2 NA18943.hp1 NA18950.hp1 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18983.hp2 NA19066.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(6): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0012 a0001c0017 a0001c0018 a0001c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0020 a0001c0004t0001 a0001c0004t0007 a0001c0004t0009 a0001c0005t0003 a0001c0006t0005 a0001c0006t0008 a0001c0010t0007 a0001c0012t0008 a0001c0017t0010 a0001c0018t0003 a0001c0027t0009	a0001c0001t0001g0175 a0001c0001t0002g0054 a0001c0001t0002g0171 others(29): Show a0001c0001t0001g0175 a0001c0001t0002g0054 a0001c0001t0002g0171 a0001c0001t0003g0164 a0001c0001t0004g0023 a0001c0001t0004g0050 a0001c0001t0005g0101 a0001c0001t0006g0032 a0001c0001t0006g0056 a0001c0001t0006g0109 a0001c0001t0006g0118 a0001c0001t0006g0121 a0001c0001t0006g0132 a0001c0001t0008g0012 a0001c0001t0008g0017 a0001c0001t0010g0019 a0001c0001t0020g0176 a0001c0004t0001g0031 a0001c0004t0001g0075 a0001c0004t0001g0136 a0001c0004t0007g0163 a0001c0004t0009g0061 a0001c0004t0009g0157 a0001c0005t0003g0013 a0001c0006t0005g0115 a0001c0006t0008g0047 a0001c0010t0007g0004 a0001c0010t0007g0167 a0001c0012t0008g0095 a0001c0017t0010g0043 a0001c0018t0003g0014 a0001c0027t0009g0078	32	176	0.1818	7	c.419 others(26): Show c.4198-1237_4198-1236insAAAAGAA		NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	37/43						chr13	TogoVar
NALCN_chr13_101048776_101421508	101070063	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp1 HG01099.hp1 others(12): Show HG00639.hp1 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01517.hp1 HG01993.hp1 HG02027.hp1 HG02129.hp1 HG02135.hp2 HG03516.hp2 HG04204.hp2 NA18941.hp2 NA18995.hp2 NA19003.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0008 others(3): Show a0001c0002 a0001c0007 a0001c0008 a0001c0013 a0001c0015 a0001c0022	a0001c0002t0002 a0001c0002t0019 a0001c0007t0002 others(4): Show a0001c0002t0002 a0001c0002t0019 a0001c0007t0002 a0001c0008t0016 a0001c0013t0012 a0001c0015t0002 a0001c0022t0002	a0001c0002t0002g0002 a0001c0002t0002g0053 a0001c0002t0002g0103 others(12): Show a0001c0002t0002g0002 a0001c0002t0002g0053 a0001c0002t0002g0103 a0001c0002t0002g0122 a0001c0002t0002g0141 a0001c0002t0002g0152 a0001c0002t0019g0135 a0001c0007t0002g0067 a0001c0007t0002g0071 a0001c0007t0002g0074 a0001c0007t0002g0129 a0001c0008t0016g0116 a0001c0013t0012g0062 a0001c0015t0002g0080 a0001c0022t0002g0055	15	176	0.0852	7	c.419 others(26): Show c.4198-1243_4198-1237dupAAAAAAA		NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	37/43						chr13	TogoVar
NALCN_chr13_101048776_101421508	101228169	A A	AAATTCTT AAATTCTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp2 HG01070.hp1 others(34): Show HG00280.hp1 HG00738.hp2 HG01070.hp1 HG01358.hp1 HG01496.hp1 HG01952.hp1 HG01975.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02818.hp1 HG02886.hp1 HG02970.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG04184.hp1 NA18906.hp2 NA18941.hp2 NA18959.hp1 NA18980.hp2 NA18983.hp1 NA18986.hp2 NA19003.hp1 NA19066.hp2 NA19082.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0004c0028	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0001c0002t0002 a0001c0002t0019 a0001c0003t0001 a0001c0010t0007 a0004c0028t0002	a0001c0001t0001g0018 a0001c0001t0001g0066 a0001c0001t0001g0070 others(34): Show a0001c0001t0001g0018 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0145 a0001c0001t0001g0175 a0001c0001t0003g0020 a0001c0001t0003g0042 a0001c0001t0008g0012 a0001c0001t0008g0017 a0001c0001t0010g0019 a0001c0001t0015g0125 a0001c0001t0018g0009 a0001c0002t0002g0025 a0001c0002t0002g0028 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0086 a0001c0002t0002g0123 a0001c0002t0002g0139 a0001c0002t0002g0141 a0001c0002t0002g0143 a0001c0002t0002g0152 a0001c0002t0002g0173 a0001c0002t0019g0135 a0001c0003t0001g0033 a0001c0003t0001g0041 a0001c0003t0001g0044 a0001c0003t0001g0051 a0001c0003t0001g0102 a0001c0003t0001g0124 a0001c0003t0001g0130 a0001c0003t0001g0134 a0001c0003t0001g0144 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0010t0007g0004 a0004c0028t0002g0045	37	176	0.2102	7	c.162 others(26): Show c.1626+1223_1626+1224insAAGAATT		NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	13/43						chr13	TogoVar
NALF1_chr13_107158510_107872496	107298351	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02922.hp1 HG02976.hp1 others(4): Show HG00738.hp1 HG02922.hp1 HG02976.hp1 HG03225.hp1 HG03225.hp2 HG03516.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0010 a0001c0001t0025 a0001c0001t0065 others(4): Show a0001c0001t0010 a0001c0001t0025 a0001c0001t0065 a0001c0001t0084 a0001c0001t0094 a0001c0002t0044 a0003c0004t0016	a0001c0001t0010g0035 a0001c0001t0025g0005 a0001c0001t0065g0025 others(4): Show a0001c0001t0010g0035 a0001c0001t0025g0005 a0001c0001t0065g0025 a0001c0001t0084g0110 a0001c0001t0094g0091 a0001c0002t0044g0079 a0003c0004t0016g0111	7	128	0.0547	7	c.916 others(26): Show c.916-87603_916-87597dupTTTTTTT		NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2						chr13	TogoVar
NALF1_chr13_107158510_107872496	107438827	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02622.hp1 HG03041.hp2 others(2): Show HG02155.hp2 HG02622.hp1 HG03041.hp2 HG03209.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0055 a0001c0001t0075 a0001c0002t0012 others(2): Show a0001c0001t0055 a0001c0001t0075 a0001c0002t0012 a0001c0002t0044 a0001c0002t0046	a0001c0001t0055g0067 a0001c0001t0075g0096 a0001c0002t0012g0085 others(2): Show a0001c0001t0055g0067 a0001c0001t0075g0096 a0001c0002t0012g0085 a0001c0002t0044g0079 a0001c0002t0046g0081	5	128	0.0391	7	c.916 others(28): Show c.916-228079_916-228073dupTTTTTTT		NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2						chr13	TogoVar
NALF1_chr13_107158510_107872496	107586635	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02056.hp2 HG02132.hp2 others(8): Show HG00408.hp1 HG02056.hp2 HG02132.hp2 HG03209.hp1 HG04228.hp2 NA18747.hp2 NA18967.hp2 NA18969.hp1 NA19002.hp1 NA19002.hp2 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 others(8): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0039 a0001c0001t0042 a0001c0001t0043 a0001c0001t0055 a0001c0001t0056 a0002c0003t0003	a0001c0001t0007g0103 a0001c0001t0008g0109 a0001c0001t0011g0043 others(8): Show a0001c0001t0007g0103 a0001c0001t0008g0109 a0001c0001t0011g0043 a0001c0001t0012g0023 a0001c0001t0019g0003 a0001c0001t0039g0052 a0001c0001t0042g0044 a0001c0001t0043g0054 a0001c0001t0055g0067 a0001c0001t0056g0062 a0002c0003t0003g0124	11	128	0.0859	7	c.915 others(28): Show c.915+279040_915+279046dupAAAAAAA		NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2						chr13	TogoVar
NALF2_chrX_69499326_69537508	69504985	A A	ACCGACCT ACCGACCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0019 a0019	a0019c0008 a0019c0008	a0019c0008t0034 a0019c0008t0034	a0019c0008t0034g0150 a0019c0008t0034g0150	1	322	0.0031	7	c.-29 others(16): Show c.-295_-294insACCTCCG		NALF2	ENSG00000130054.5	transcript	ENST00000252338.5	protein_coding	1/3				294	INFO_REALIGN_3_PRIME	chrX	TogoVar
NAMPT_chr7_106243298_106289983	106267840	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01258.hp2 HG01358.hp2 others(13): Show HG01175.hp2 HG01258.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp2 HG02132.hp1 HG02630.hp2 HG03017.hp1 HG03017.hp2 HG03490.hp1 NA18612.hp2 NA18970.hp2 NA18983.hp1 NA19060.hp2 NA19062.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0025 a0001c0002t0002 a0001c0001t0001 a0001c0001t0025 a0001c0002t0002	a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0065 others(9): Show a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0106 a0001c0001t0001g0136 a0001c0001t0001g0164 a0001c0001t0025g0067 a0001c0002t0002g0011 a0001c0002t0002g0214 a0001c0002t0002g0240 a0001c0002t0002g0260	16	336	0.0476	7	c.743 others(22): Show c.743+617_743+623dupTTTTTTT		NAMPT	ENSG00000105835.13	transcript	ENST00000222553.8	protein_coding	6/10						chr7	TogoVar
NAMPT_chr7_106243298_106289983	106284496	G G	GCCCAAGC GCCCAAGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp1 HG02615.hp2 others(3): Show HG02109.hp2 HG02258.hp1 HG02615.hp2 HG02622.hp1 NA18997.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 others(3): Show a0001c0001t0001g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274	6	336	0.0179	7	c.57+ others(20): Show c.57+325_57+331dupGCTTGGG		NAMPT	ENSG00000105835.13	transcript	ENST00000222553.8	protein_coding	1/10						chr7	TogoVar
NANOS3_chr19_13872134_13885757	13883872	T T	TGGTGGTG TGGTGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(152): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00558.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01257.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03710.hp2 HG04184.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18954.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18989.hp2 NA18994.hp2 NA18997.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19057.hp2 NA19060.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19085.hp2 NA19088.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0003t0003 a0003c0004t0001 a0004c0006t0003	a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0030 others(22): Show a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0002g0002 a0001c0002t0002g0007 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0022 a0001c0002t0002g0023 a0002c0003t0001g0011 a0002c0003t0003g0004 a0003c0004t0001g0005 a0003c0004t0001g0012 a0003c0004t0001g0024 a0003c0004t0001g0034 a0003c0004t0001g0036 a0004c0006t0003g0004	155	380	0.4079	7	c.33 others(18): Show c.3369_*3370insGGTGGTG		NANOS3	ENSG00000187556.8	transcript	ENST00000339133.6	protein_coding					3116		chr19	TogoVar
NANS_chr9_98051732_98088077	98065483	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01515.hp1 HG01891.hp2 others(3): Show HG01256.hp2 HG01515.hp1 HG01891.hp2 HG02132.hp2 HG03688.hp2 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0143 others(3): Show a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0151 a0001c0003t0001g0156	6	318	0.0189	7	c.348 others(24): Show c.348+4507_348+4513dupTTTTTTT		NANS	ENSG00000095380.11	transcript	ENST00000210444.6	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
NAP1L4_chr11_2939437_2997329	2981418	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01081.hp1 HG01257.hp1 others(32): Show HG00438.hp2 HG01081.hp1 HG01257.hp1 HG01346.hp2 HG01358.hp2 HG01884.hp2 HG01975.hp2 HG02055.hp1 HG02132.hp2 HG02165.hp1 HG02293.hp1 HG02698.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp1 NA18939.hp1 NA18942.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18964.hp1 NA18978.hp2 NA18989.hp1 NA18993.hp2 NA19001.hp1 NA19003.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19074.hp1 NA19081.hp1 NA19086.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0012 others(24): Show a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0098 a0001c0001t0002g0103 a0001c0001t0002g0151 a0001c0001t0012g0053	35	335	0.1045	7	c.-17 others(24): Show c.-17-2188_-17-2182dupTTTTTTT		NAP1L4	ENSG00000205531.14	transcript	ENST00000380542.9	protein_coding	1/15						chr11	TogoVar
NARS1_chr18_57595656_57626836	57607841	A A	AAATACAC AAATACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(27): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00738.hp1 HG01070.hp2 HG01081.hp1 HG01515.hp1 HG01517.hp2 HG02015.hp1 HG02040.hp2 HG02129.hp2 HG02135.hp1 HG02293.hp2 HG04204.hp1 NA18747.hp2 NA18944.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA19000.hp2 NA19004.hp1 NA19009.hp1 NA19058.hp2 NA19067.hp2 NA19083.hp1 NA19090.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0026 a0001c0001t0004g0046 others(21): Show a0001c0001t0004g0013 a0001c0001t0004g0026 a0001c0001t0004g0046 a0001c0001t0004g0119 a0001c0001t0004g0146 a0001c0001t0004g0202 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0216 a0001c0001t0004g0222 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0230	30	420	0.0714	7	c.580 others(22): Show c.580-183_580-177dupGTGTATT		NARS1	ENSG00000134440.12	transcript	ENST00000256854.10	protein_coding	7/13						chr18	TogoVar
NARS2_chr11_78430968_78579864	78468310	G G	GAAAAAAA GAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02615.hp1 HG02717.hp1 others(3): Show HG01891.hp1 HG02615.hp1 HG02717.hp1 HG02895.hp1 HG03453.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0003 a0001c0005t0001 a0001c0003t0003 a0001c0005t0001	a0001c0003t0003g0257 a0001c0003t0003g0258 a0001c0005t0001g0068 others(3): Show a0001c0003t0003g0257 a0001c0003t0003g0258 a0001c0005t0001g0068 a0001c0005t0001g0143 a0001c0005t0001g0144 a0001c0005t0001g0145	6	294	0.0204	7	c.102 others(24): Show c.1026+930_1026+936dupTTTTTTT		NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	10/13						chr11	TogoVar
NARS2_chr11_78430968_78579864	78562031	T T	TCAAAAAA TCAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02723.hp2 HG03130.hp1 others(3): Show HG02055.hp2 HG02723.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 others(1): Show a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0001c0003t0015	a0001c0003t0003g0168 a0001c0003t0003g0169 a0001c0003t0004g0274 others(3): Show a0001c0003t0003g0168 a0001c0003t0003g0169 a0001c0003t0004g0274 a0001c0003t0004g0275 a0001c0003t0006g0259 a0001c0003t0015g0266	6	294	0.0204	7	c.514 others(24): Show c.514-2419_514-2413dupTTTTTTG		NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	4/13						chr11	TogoVar
NASP_chr1_45579041_45623893	45586284	G G	GTGTGTGT GTGTGTGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19066.hp1 NA20129.hp2 NA19043.hp1 NA19066.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0296 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0296	3	300	0.0100	7	c.59+ others(22): Show c.59+2079_59+2080insTGTGTGT		NASP	ENSG00000132780.17	transcript	ENST00000350030.8	protein_coding	1/14						chr1	TogoVar
NAT16_chr7_101165496_101185293	101178889	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00642.hp2 HG01192.hp2 others(37): Show HG00597.hp2 HG00642.hp2 HG01192.hp2 HG01258.hp2 HG02080.hp1 HG02135.hp1 HG02165.hp1 HG02257.hp2 HG02280.hp2 HG02630.hp2 HG02723.hp2 HG02886.hp2 HG03017.hp1 HG03130.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG03516.hp2 HG03834.hp1 HG03927.hp2 NA18522.hp2 NA18940.hp2 NA18944.hp2 NA18948.hp2 NA18951.hp1 NA18955.hp2 NA18960.hp2 NA18963.hp2 NA18984.hp2 NA18989.hp1 NA18991.hp2 NA18992.hp2 NA19004.hp1 NA19065.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016	a0001c0001t0001g0051 a0001c0001t0001g0168 a0001c0001t0003g0007 others(19): Show a0001c0001t0001g0051 a0001c0001t0001g0168 a0001c0001t0003g0007 a0001c0001t0003g0018 a0001c0001t0003g0027 a0001c0001t0003g0033 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0077 a0001c0001t0004g0159 a0001c0001t0004g0164 a0001c0001t0004g0166 a0001c0001t0010g0167 a0001c0001t0011g0079 a0001c0001t0016g0125	40	422	0.0948	7	c.-5+ others(22): Show c.-5+1146_-5+1152dupTTTTTTT		NAT16	ENSG00000167011.9	transcript	ENST00000300303.7	protein_coding	1/3						chr7	TogoVar
NAT8L_chr4_2054327_2074089	2060625	T T	TCCTCCCC TCCTCCCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02055.hp2 HG02258.hp2 others(3): Show HG00408.hp1 HG02055.hp2 HG02258.hp2 HG02723.hp2 HG03579.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0001t0071 a0001c0002t0001 a0001c0001t0011 a0001c0001t0071 a0001c0002t0001	a0001c0001t0011g0008 a0001c0001t0071g0008 a0001c0002t0001g0034 a0001c0001t0011g0008 a0001c0001t0071g0008 a0001c0002t0001g0034	6	378	0.0159	7	c.377 others(22): Show c.377-357_377-351dupCTCCCCC		NAT8L	ENSG00000185818.8	transcript	ENST00000423729.3	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr4	TogoVar
NAV1_chr1_201534127_201831969	201562171	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp2 HG02922.hp1 others(10): Show HG02109.hp1 HG02559.hp2 HG02922.hp1 HG02976.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03654.hp1 HG04204.hp2 NA19000.hp1 NA19000.hp2 NA19043.hp2 NA19057.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0009 a0001c0010 others(4): Show a0001c0001 a0001c0009 a0001c0010 a0003c0020 a0003c0032 a0004c0003 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0028 a0001c0009t0022 a0001c0010t0066 a0001c0010t0092 a0003c0020t0090 a0003c0032t0006 a0004c0003t0038 a0005c0005t0014	a0001c0001t0001g0121 a0001c0001t0002g0049 a0001c0001t0002g0068 others(10): Show a0001c0001t0001g0121 a0001c0001t0002g0049 a0001c0001t0002g0068 a0001c0001t0003g0021 a0001c0001t0016g0190 a0001c0001t0028g0177 a0001c0009t0022g0174 a0001c0010t0066g0085 a0001c0010t0092g0173 a0003c0020t0090g0161 a0003c0032t0006g0207 a0004c0003t0038g0014 a0005c0005t0014g0131	13	210	0.0619	7	c.-14 others(28): Show c.-144+22840_-144+22846dupTTTTTTT		NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	1/33					INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201642534	T T	TTTCTTTC TTTCTTTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02896.hp1 HG02970.hp1 HG02451.hp2 HG02896.hp1 HG02970.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0030 a0001c0001 a0014c0030	a0001c0001t0001 a0001c0001t0071 a0014c0030t0015 a0001c0001t0001 a0001c0001t0071 a0014c0030t0015	a0001c0001t0001g0140 a0001c0001t0071g0209 a0014c0030t0015g0208 a0001c0001t0001g0140 a0001c0001t0071g0209 a0014c0030t0015g0208	3	210	0.0143	7	c.827 others(24): Show c.827-6097_827-6091dupCTTTCTT		NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	4/33					INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201768333	G G	GAAAAAAA GAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01433.hp1 HG01993.hp2 others(27): Show HG01071.hp2 HG01433.hp1 HG01993.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19240.hp1	a0001 a0003 a0006 others(4): Show a0001 a0003 a0006 a0008 a0012 a0013 a0015	a0001c0001 a0001c0006 a0001c0009 others(14): Show a0001c0001 a0001c0006 a0001c0009 a0001c0010 a0001c0033 a0001c0038 a0003c0004 a0003c0020 a0003c0031 a0003c0032 a0003c0037 a0003c0039 a0006c0008 a0008c0017 a0012c0029 a0013c0034 a0015c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0030 a0001c0001t0052 a0001c0001t0056 a0001c0001t0084 a0001c0006t0021 a0001c0009t0089 a0001c0010t0066 a0001c0010t0092 a0001c0033t0051 a0001c0038t0076 a0003c0004t0006 a0003c0004t0026 a0003c0004t0041 a0003c0020t0090 a0003c0031t0006 a0003c0032t0006 a0003c0037t0006 a0003c0039t0061 a0006c0008t0057 a0008c0017t0027 a0012c0029t0004 a0013c0034t0024 a0015c0024t0031	a0001c0001t0001g0124 a0001c0001t0002g0005 a0001c0001t0004g0159 others(27): Show a0001c0001t0001g0124 a0001c0001t0002g0005 a0001c0001t0004g0159 a0001c0001t0016g0082 a0001c0001t0017g0113 a0001c0001t0020g0083 a0001c0001t0030g0126 a0001c0001t0052g0112 a0001c0001t0056g0078 a0001c0001t0084g0156 a0001c0006t0021g0130 a0001c0006t0021g0201 a0001c0009t0089g0199 a0001c0010t0066g0085 a0001c0010t0092g0173 a0001c0033t0051g0107 a0001c0038t0076g0206 a0003c0004t0006g0123 a0003c0004t0026g0187 a0003c0004t0041g0079 a0003c0020t0090g0161 a0003c0031t0006g0116 a0003c0032t0006g0207 a0003c0037t0006g0191 a0003c0039t0061g0104 a0006c0008t0057g0118 a0008c0017t0027g0106 a0012c0029t0004g0077 a0013c0034t0024g0134 a0015c0024t0031g0197	30	210	0.1429	7	c.208 others(28): Show c.2088-12078_2088-12072dupAAAAAAA		NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	7/33					INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV2_chr11_19707837_20126601	19785647	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01168.hp2 HG01256.hp1 others(3): Show HG00741.hp2 HG01168.hp2 HG01256.hp1 HG01515.hp1 HG03831.hp1 HG04115.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0029 a0002c0002 a0002c0013 others(2): Show a0001c0029 a0002c0002 a0002c0013 a0002c0117 a0007c0110	a0001c0029t0006 a0002c0002t0001 a0002c0002t0019 others(3): Show a0001c0029t0006 a0002c0002t0001 a0002c0002t0019 a0002c0013t0001 a0002c0117t0001 a0007c0110t0001	a0001c0029t0006g0104 a0002c0002t0001g0059 a0002c0002t0019g0099 others(3): Show a0001c0029t0006g0104 a0002c0002t0001g0059 a0002c0002t0019g0099 a0002c0013t0001g0144 a0002c0117t0001g0036 a0007c0110t0001g0074	6	166	0.0361	7	c.268 others(26): Show c.268-46831_268-46825dupTTTTTTT		NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	1/37					INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19852769	C C	CAGGCCTA CAGGCCTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00558.hp1 others(68): Show HG00140.hp1 HG00438.hp2 HG00558.hp1 HG00639.hp1 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01952.hp1 HG01952.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02647.hp1 HG02717.hp1 HG02965.hp1 HG02976.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18947.hp1 NA18947.hp2 NA18964.hp2 NA19043.hp2 NA19066.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0013 a0015 a0018 a0020 a0021 a0022	a0001c0003 a0001c0007 a0001c0028 others(61): Show a0001c0003 a0001c0007 a0001c0028 a0001c0029 a0001c0031 a0001c0033 a0001c0034 a0001c0036 a0001c0044 a0001c0052 a0001c0059 a0001c0067 a0001c0070 a0001c0073 a0001c0077 a0001c0080 a0001c0083 a0001c0085 a0001c0086 a0002c0002 a0002c0004 a0002c0013 a0002c0014 a0002c0015 a0002c0114 a0002c0115 a0002c0117 a0002c0118 a0002c0128 a0002c0129 a0002c0137 a0003c0001 a0003c0016 a0003c0017 a0003c0105 a0003c0120 a0003c0132 a0004c0005 a0004c0006 a0004c0027 a0004c0042 a0004c0043 a0004c0062 a0004c0063 a0004c0064 a0005c0026 a0005c0035 a0005c0060 a0005c0081 a0005c0143 a0006c0022 a0006c0023 a0007c0109 a0007c0110 a0007c0111 a0007c0113 a0009c0108 a0009c0112 a0013c0131 a0015c0084 a0018c0140 a0020c0056 a0021c0088 a0022c0025	a0001c0003t0023 a0001c0007t0007 a0001c0028t0030 others(65): Show a0001c0003t0023 a0001c0007t0007 a0001c0028t0030 a0001c0029t0006 a0001c0031t0001 a0001c0033t0004 a0001c0034t0041 a0001c0036t0046 a0001c0044t0003 a0001c0052t0007 a0001c0059t0016 a0001c0067t0038 a0001c0070t0007 a0001c0073t0001 a0001c0077t0001 a0001c0080t0012 a0001c0083t0005 a0001c0085t0001 a0001c0086t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0019 a0002c0004t0001 a0002c0013t0001 a0002c0014t0001 a0002c0015t0042 a0002c0114t0006 a0002c0115t0005 a0002c0117t0001 a0002c0118t0004 a0002c0128t0004 a0002c0129t0013 a0002c0137t0001 a0003c0001t0001 a0003c0016t0001 a0003c0017t0001 a0003c0017t0006 a0003c0105t0001 a0003c0120t0032 a0003c0132t0006 a0004c0005t0005 a0004c0006t0008 a0004c0006t0047 a0004c0027t0008 a0004c0042t0001 a0004c0043t0009 a0004c0062t0005 a0004c0063t0004 a0004c0064t0003 a0005c0026t0002 a0005c0035t0001 a0005c0060t0002 a0005c0081t0025 a0005c0143t0019 a0006c0022t0004 a0006c0023t0003 a0007c0109t0003 a0007c0110t0001 a0007c0111t0006 a0007c0113t0002 a0009c0108t0004 a0009c0112t0001 a0013c0131t0014 a0015c0084t0017 a0018c0140t0031 a0020c0056t0008 a0021c0088t0043 a0022c0025t0002	a0001c0003t0023g0132 a0001c0007t0007g0088 a0001c0028t0030g0073 others(68): Show a0001c0003t0023g0132 a0001c0007t0007g0088 a0001c0028t0030g0073 a0001c0029t0006g0104 a0001c0031t0001g0082 a0001c0033t0004g0058 a0001c0034t0041g0112 a0001c0036t0046g0123 a0001c0044t0003g0005 a0001c0052t0007g0134 a0001c0059t0016g0119 a0001c0067t0038g0004 a0001c0070t0007g0011 a0001c0073t0001g0042 a0001c0077t0001g0122 a0001c0080t0012g0164 a0001c0083t0005g0075 a0001c0085t0001g0148 a0001c0086t0001g0034 a0002c0002t0001g0059 a0002c0002t0004g0029 a0002c0002t0019g0099 a0002c0004t0001g0040 a0002c0013t0001g0144 a0002c0013t0001g0145 a0002c0014t0001g0033 a0002c0014t0001g0062 a0002c0015t0042g0037 a0002c0114t0006g0102 a0002c0115t0005g0136 a0002c0117t0001g0036 a0002c0118t0004g0103 a0002c0128t0004g0030 a0002c0129t0013g0149 a0002c0137t0001g0035 a0003c0001t0001g0060 a0003c0016t0001g0021 a0003c0017t0001g0051 a0003c0017t0006g0026 a0003c0105t0001g0143 a0003c0120t0032g0041 a0003c0132t0006g0024 a0004c0005t0005g0128 a0004c0005t0005g0131 a0004c0006t0008g0159 a0004c0006t0047g0002 a0004c0027t0008g0158 a0004c0042t0001g0161 a0004c0043t0009g0147 a0004c0062t0005g0006 a0004c0063t0004g0016 a0004c0064t0003g0080 a0005c0026t0002g0120 a0005c0035t0001g0038 a0005c0060t0002g0048 a0005c0081t0025g0084 a0005c0143t0019g0114 a0006c0022t0004g0124 a0006c0023t0003g0027 a0007c0109t0003g0045 a0007c0110t0001g0074 a0007c0111t0006g0071 a0007c0113t0002g0105 a0009c0108t0004g0039 a0009c0112t0001g0061 a0013c0131t0014g0022 a0015c0084t0017g0090 a0018c0140t0031g0166 a0020c0056t0008g0093 a0021c0088t0043g0020 a0022c0025t0002g0115	71	166	0.4277	7	c.438 others(24): Show c.438+9847_438+9853dupAGGCCTA		NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	3/37					INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	20005254	T T	TATATATA TATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03225.hp2 HG03516.hp2 others(1): Show HG02970.hp2 HG03225.hp2 HG03516.hp2 NA20129.hp2	a0001 a0020 a0001 a0020	a0001c0007 a0001c0050 a0001c0067 others(1): Show a0001c0007 a0001c0050 a0001c0067 a0020c0056	a0001c0007t0007 a0001c0050t0035 a0001c0067t0038 others(1): Show a0001c0007t0007 a0001c0050t0035 a0001c0067t0038 a0020c0056t0008	a0001c0007t0007g0088 a0001c0050t0035g0151 a0001c0067t0038g0004 others(1): Show a0001c0007t0007g0088 a0001c0050t0035g0151 a0001c0067t0038g0004 a0020c0056t0008g0093	4	166	0.0241	7	c.276 others(28): Show c.2768+21007_2768+21008insATATATA		NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	11/37						chr11	TogoVar
NAV3_chr12_77825894_78218010	78162869	A A	ATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02293.hp2 HG03831.hp1 HG01192.hp1 HG02293.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0071 a0001c0008t0004 a0001c0001t0001 a0001c0001t0071 a0001c0008t0004	a0001c0001t0001g0126 a0001c0001t0071g0131 a0001c0008t0004g0082 a0001c0001t0001g0126 a0001c0001t0071g0131 a0001c0008t0004g0082	3	186	0.0161	7	c.486 others(26): Show c.4869+3583_4869+3584insTATATAT		NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	23/39						chr12	TogoVar
NBAS_chr2_15161916_15566334	15381273	C C	CTTTCAAA CTTTCAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp2 others(121): Show HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00639.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03486.hp1 HG03491.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG04199.hp1 NA18522.hp2 NA18612.hp2 NA18939.hp1 NA18943.hp1 NA18948.hp1 NA18948.hp2 NA18960.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18980.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19060.hp2 NA19064.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(28): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0019 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0032 a0033 a0037 a0038 a0039 a0040	a0001c0003 a0001c0023 a0002c0002 others(35): Show a0001c0003 a0001c0023 a0002c0002 a0002c0009 a0003c0010 a0003c0011 a0003c0021 a0005c0006 a0005c0054 a0006c0008 a0007c0007 a0008c0014 a0008c0019 a0009c0027 a0010c0013 a0011c0016 a0012c0012 a0013c0015 a0014c0028 a0015c0048 a0015c0050 a0016c0055 a0017c0049 a0019c0020 a0022c0044 a0023c0052 a0024c0026 a0025c0029 a0026c0018 a0027c0031 a0028c0024 a0029c0043 a0032c0025 a0033c0047 a0037c0045 a0038c0046 a0039c0051 a0040c0022	a0001c0003t0001 a0001c0023t0001 a0002c0002t0001 others(35): Show a0001c0003t0001 a0001c0023t0001 a0002c0002t0001 a0002c0009t0001 a0003c0010t0001 a0003c0011t0001 a0003c0021t0001 a0005c0006t0001 a0005c0054t0001 a0006c0008t0001 a0007c0007t0001 a0008c0014t0001 a0008c0019t0001 a0009c0027t0001 a0010c0013t0001 a0011c0016t0001 a0012c0012t0001 a0013c0015t0001 a0014c0028t0001 a0015c0048t0001 a0015c0050t0001 a0016c0055t0001 a0017c0049t0001 a0019c0020t0001 a0022c0044t0001 a0023c0052t0001 a0024c0026t0001 a0025c0029t0001 a0026c0018t0001 a0027c0031t0001 a0028c0024t0001 a0029c0043t0001 a0032c0025t0001 a0033c0047t0001 a0037c0045t0001 a0038c0046t0001 a0039c0051t0001 a0040c0022t0001	a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0014 others(121): Show a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0030 a0001c0003t0001g0033 a0001c0003t0001g0039 a0001c0023t0001g0007 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0219 a0002c0009t0001g0160 a0002c0009t0001g0165 a0002c0009t0001g0191 a0002c0009t0001g0193 a0003c0010t0001g0048 a0003c0011t0001g0022 a0003c0011t0001g0034 a0003c0021t0001g0009 a0005c0006t0001g0136 a0005c0006t0001g0138 a0005c0006t0001g0139 a0005c0006t0001g0140 a0005c0006t0001g0141 a0005c0006t0001g0142 a0005c0054t0001g0137 a0006c0008t0001g0016 a0006c0008t0001g0017 a0006c0008t0001g0144 a0006c0008t0001g0222 a0007c0007t0001g0156 a0007c0007t0001g0217 a0007c0007t0001g0218 a0007c0007t0001g0220 a0008c0014t0001g0133 a0008c0014t0001g0134 a0008c0019t0001g0004 a0009c0027t0001g0026 a0010c0013t0001g0131 a0010c0013t0001g0132 a0011c0016t0001g0177 a0011c0016t0001g0201 a0012c0012t0001g0032 a0012c0012t0001g0143 a0013c0015t0001g0002 a0013c0015t0001g0223 a0014c0028t0001g0010 a0015c0048t0001g0183 a0015c0050t0001g0200 a0016c0055t0001g0135 a0017c0049t0001g0188 a0019c0020t0001g0005 a0022c0044t0001g0176 a0023c0052t0001g0148 a0024c0026t0001g0021 a0025c0029t0001g0031 a0026c0018t0001g0153 a0027c0031t0001g0029 a0028c0024t0001g0028 a0029c0043t0001g0027 a0032c0025t0001g0003 a0033c0047t0001g0159 a0037c0045t0001g0221 a0038c0046t0001g0210 a0039c0051t0001g0194 a0040c0022t0001g0008	124	224	0.5536	7	c.336 others(26): Show c.3361-1443_3361-1442insTTTGAAA		NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	29/51						chr2	TogoVar
NBAS_chr2_15161916_15566334	15559062	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00639.hp2 others(38): Show HG00280.hp2 HG00323.hp2 HG00639.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01255.hp1 HG01256.hp1 HG01934.hp2 HG01993.hp2 HG02004.hp1 HG02074.hp2 HG02132.hp2 HG02273.hp1 HG02280.hp2 HG02698.hp2 HG02735.hp1 HG02886.hp2 HG03041.hp2 HG03704.hp1 NA18612.hp2 NA18939.hp1 NA18943.hp1 NA18948.hp2 NA18960.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18973.hp2 NA18974.hp1 NA18984.hp1 NA18992.hp1 NA18999.hp1 NA19005.hp1 NA19054.hp2 NA19064.hp2 NA19077.hp2 NA19081.hp2 NA20300.hp2 NA21309.hp2	a0002 a0007 a0011 others(5): Show a0002 a0007 a0011 a0015 a0017 a0022 a0026 a0033	a0002c0002 a0002c0009 a0007c0007 others(6): Show a0002c0002 a0002c0009 a0007c0007 a0011c0016 a0015c0048 a0017c0049 a0022c0044 a0026c0018 a0033c0047	a0002c0002t0001 a0002c0009t0001 a0007c0007t0001 others(6): Show a0002c0002t0001 a0002c0009t0001 a0007c0007t0001 a0011c0016t0001 a0015c0048t0001 a0017c0049t0001 a0022c0044t0001 a0026c0018t0001 a0033c0047t0001	a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 others(38): Show a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0009t0001g0160 a0002c0009t0001g0165 a0007c0007t0001g0156 a0011c0016t0001g0177 a0015c0048t0001g0183 a0017c0049t0001g0188 a0022c0044t0001g0176 a0026c0018t0001g0153 a0033c0047t0001g0159	41	224	0.1830	7	c.118 others(22): Show c.118-435_118-429dupTTTTTTT		NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	1/51						chr2	TogoVar
NBDY_chrX_56724243_56824179	56730513	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00423.hp2 others(24): Show HG00140.hp1 HG00423.hp1 HG00423.hp2 HG01109.hp1 HG01175.hp1 HG01943.hp1 HG02056.hp1 HG02083.hp1 HG02602.hp1 HG02615.hp2 HG02647.hp1 HG02818.hp2 HG03669.hp1 HG04199.hp1 NA18747.hp1 NA18947.hp2 NA18955.hp1 NA18967.hp1 NA18970.hp1 NA18988.hp1 NA18990.hp1 NA19002.hp2 NA19043.hp1 NA19075.hp1 NA19079.hp1 NA19085.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0074 others(24): Show a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0002g0002 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0159 a0001c0001t0003g0016 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0006g0017 a0001c0001t0006g0018 a0001c0001t0007g0061 a0001c0001t0007g0064	27	160	0.1688	7	c.29 others(22): Show c.29+951_*29+957dupAAAAAAA		NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
NBDY_chrX_56724243_56824179	56764702	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	160	0.0063	7	c.16 others(28): Show c.166+32517_*166+32523dupAAAAAAA		NBDY	ENSG00000204272.13	transcript	ENST00000374922.9	protein_coding	2/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
NBEAL1_chr2_203009875_203230194	203119424	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00642.hp2 others(16): Show HG00423.hp1 HG00544.hp1 HG00642.hp2 HG01175.hp2 HG02056.hp1 HG02083.hp1 HG02145.hp1 HG02145.hp2 HG02622.hp1 HG03688.hp2 HG03942.hp1 NA18945.hp2 NA18965.hp1 NA18991.hp2 NA18995.hp2 NA18999.hp2 NA19062.hp2 NA19077.hp2 NA19078.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0007 a0001c0019 others(2): Show a0001c0001 a0001c0007 a0001c0019 a0002c0002 a0004c0005	a0001c0001t0002 a0001c0001t0016 a0001c0007t0002 others(4): Show a0001c0001t0002 a0001c0001t0016 a0001c0007t0002 a0001c0019t0030 a0002c0002t0003 a0004c0005t0002 a0004c0005t0009	a0001c0001t0002g0103 a0001c0001t0002g0113 a0001c0001t0002g0117 others(16): Show a0001c0001t0002g0103 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0184 a0001c0001t0016g0161 a0001c0007t0002g0059 a0001c0007t0002g0092 a0001c0019t0030g0180 a0002c0002t0003g0048 a0004c0005t0002g0174 a0004c0005t0009g0170	19	292	0.0651	7	c.259 others(26): Show c.2593-2816_2593-2810dupTTTTTTT		NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	18/55					INFO_REALIGN_3_PRIME	chr2	TogoVar
NBEAL1_chr2_203009875_203230194	203139557	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02083.hp2 HG02135.hp1 others(6): Show HG00408.hp2 HG02083.hp2 HG02135.hp1 HG02293.hp2 HG03579.hp2 HG03831.hp2 HG03942.hp2 NA18995.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0001t0029 a0001c0001t0040 others(1): Show a0001c0001t0001 a0001c0001t0029 a0001c0001t0040 a0001c0024t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0252 a0001c0001t0029g0236 a0001c0001t0040g0012 a0001c0024t0001g0005	9	292	0.0308	7	c.484 others(24): Show c.4848+832_4848+838dupTTTTTTT		NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	31/55					INFO_REALIGN_3_PRIME	chr2	TogoVar
NBEAL1_chr2_203009875_203230194	203141366	A A	ATTATTAT ATTATTAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp1 HG00738.hp2 others(10): Show HG00438.hp1 HG00735.hp1 HG00738.hp2 HG01099.hp1 HG01167.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG02486.hp2 HG03491.hp1 NA18980.hp2 NA20752.hp1 NA20752.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0005c0006 a0001c0001 a0001c0004 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 a0001c0004t0005 a0001c0004t0048 a0005c0006t0002	a0001c0001t0001g0235 a0001c0001t0002g0108 a0001c0001t0005g0283 others(10): Show a0001c0001t0001g0235 a0001c0001t0002g0108 a0001c0001t0005g0283 a0001c0001t0014g0260 a0001c0004t0005g0274 a0001c0004t0005g0275 a0001c0004t0005g0276 a0001c0004t0005g0278 a0001c0004t0005g0281 a0001c0004t0005g0282 a0001c0004t0005g0284 a0001c0004t0048g0285 a0005c0006t0002g0179	13	292	0.0445	7	c.484 others(26): Show c.4848+2620_4848+2621insATTATTT		NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	31/55					INFO_REALIGN_3_PRIME	chr2	TogoVar

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