Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RPH3AL_chr17_207389_357807	254195	TTTCCATC others(194): Show TTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAGC CGCATGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA TGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCC TG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0066 a0001c0001t0009g0066	1	126	0.0079	-201	c.439 others(17): Show c.439-7111_439-6911del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	254356	TACGTACT others(194): Show TACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCCTGTTCCATCCC TAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGT CTGTCCTTTTCCGTCCCTAGGAATATGACTACCCTACGTACTTCCTATGA GGGGAGCTGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACC CA	T T	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	125	0.0080	-201	c.439 others(17): Show c.439-7272_439-7072del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	254848	CGCACGGC others(194): Show CGCACGGCGTCTGTCCTGTTCCATCCCTAGGAATGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG01978.hp2 others(1): Show HG00280.hp1 HG00280.hp2 HG01978.hp2 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0001 a0001c0001t0004 a0001c0001t0011	a0001c0001t0001g0065 a0001c0001t0001g0115 a0001c0001t0004g0039 others(1): Show a0001c0001t0001g0065 a0001c0001t0001g0115 a0001c0001t0004g0039 a0001c0001t0011g0007	4	123	0.0325	-201	c.439 others(17): Show c.439-7764_439-7564del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	255267	TTTCCATC others(194): Show TTTCCATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAGC CGCATGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA CGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCC TG	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0103 a0001c0002t0029g0103	1	128	0.0078	-201	c.439 others(17): Show c.439-8183_439-7983del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	255518	CGCACGGC others(194): Show CGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA CGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0018 a0001c0001t0034g0018	1	120	0.0083	-201	c.439 others(17): Show c.439-8434_439-8234del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	255674	ATCCCTAG others(194): Show ATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCAC GGCGTCTGTCCTGTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCC TATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGA CTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTC CG	A A	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0005 a0001c0001t0012g0005	1	110	0.0091	-201	c.439 others(17): Show c.439-8590_439-8390del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	255793	CGTCTGTC others(194): Show CGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTA TGAGGGGAGCCGCACGGCGTCTGTCCTGTTCCGTCCCTAGGAATGTGACT ACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCA TCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACG GT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	123	0.0081	-201	c.439 others(17): Show c.439-8709_439-8509del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	255870	GTTCCGTC others(194): Show GTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGC CGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGACTACCCTACGTA CTTCCTATGAGGGGAGCTGCACGGTGTCTGTCCTTTTCCATCCCTAGGAA CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0036 a0001c0003t0036	a0001c0003t0036g0064 a0001c0003t0036g0064	1	56	0.0179	-201	c.439 others(17): Show c.439-8786_439-8586del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	256489	TGTGACTA others(194): Show TGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TGTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA AC	T T	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	77	0.0130	-201	c.439 others(17): Show c.439-9405_439-9205del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	256540	GTTCCATC others(194): Show GTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGC CGCACGGCGTCTGTCCTGTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TT	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0005 a0002c0012t0005	a0002c0012t0005g0020 a0002c0012t0005g0020	1	44	0.0227	-201	c.439 others(17): Show c.439-9456_439-9256del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	257683	CGTCCCTA others(194): Show CGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCA CGGTGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTC CTATGAGGGGAGCCGCACGGTGTCTGTCCTGTTCTGTCCCTAGGAATGTG ACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGTCCTGTT CT	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18940.hp2 NA19043.hp2 HG02135.hp2 NA18940.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0028 a0001c0004t0001 a0001c0004t0004 a0001c0003t0028 a0001c0004t0001 a0001c0004t0004	a0001c0003t0028g0088 a0001c0004t0001g0046 a0001c0004t0004g0014 a0001c0003t0028g0088 a0001c0004t0001g0046 a0001c0004t0004g0014	3	130	0.0231	-201	c.439 others(19): Show c.439-10599_439-10399del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
SENP1_chr12_48037897_48111079	48056745	TATTACAT others(194): Show TATTACATATATAAATATATTTAACATATTACATATTACATATATATTAT TTAATATATTACATATTACATATATAAATATATTTAACATATTACATATT ACATATATATTATTTAATATATTACATATTACATATATAATATATTATTT AATATATTACATATTACATATATAATATATTATTTAATATATTACATATT AC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0297 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0297 a0001c0001t0004g0300 a0001c0001t0004g0301	3	391	0.0077	-201	c.140 others(19): Show c.1407+6764_1407+6964del		SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17						chr12	TogoVar
SGSM2_chr17_2332501_2386054	2377047	CAACATGC others(194): Show CAACATGCGCTCCCTCATCCAGGTGAGGCCGGTTGCCACCCATGGGCATG GGAGCAGGCAGTGCTGGGCTGGTCCATCGTCCACATGGCTAGGGAGCATT CCACAAACATACTTGACATAGAAACTTAACTTCTTTCATTTTAAAAGACA TGGTTTCAGCAGGGCAACGTGGCTCAGGCCTGTCATCCCAGCAATTTAGG AG	C C	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG01070.hp1 HG01070.hp1	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0001 a0010c0023t0001	a0010c0023t0001g0366 a0010c0023t0001g0366	1	420	0.0024	-201	c.278 others(13): Show c.2782_2802+180del	p.Asn others(13): Show p.Asn928_Gln934del	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	21/24	2970/4878	2782/3156	928/1051			chr17	TogoVar
SLC16A3_chr17_82224042_82245086	82224257	TGTGCAGA others(194): Show TGTGCAGACACACCCCTACACCCGTGCAGACACACCCCTACACCTGTGCA GTCACCTGTGCAGACACACCCCTACACCTGTGCAGTCACCTGTGCAGACA CACCCCTACACCCGTGCAGTCACCTGTGCAGACACACCCCTACACCCGTG CAGACACACCCCTACACCTTGCAGTCACCTGTGCAGACACACCCCTACAC CC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG02258.hp2 others(11): Show HG01884.hp2 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02615.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03471.hp2 HG03516.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0001 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0054 a0001c0001t0001g0188 a0001c0001t0001g0283 others(9): Show a0001c0001t0001g0054 a0001c0001t0001g0188 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0005g0020 a0001c0001t0010g0020	14	408	0.0343	-201	c.-48 others(11): Show c.-4875_-4675del		SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding					4784		chr17	TogoVar
SLC16A9_chr10_59645764_59714850	59681446	ATATGTGT others(194): Show ATATGTGTATGTGTATGTGTATGTATATGTATATGTATATGTATATGTAT ATGTATATGTATATGATGTATATGTATATGTGTATGTGTATGTGTATGTA TATGTATATGTATATGATGTATATGTATATGTGTATGTGTATGTATATGT ATATGTATATGTATATGTATATGTATATGATGTATATGTATATGTGTATG TG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01081.hp1 HG01109.hp2 others(14): Show HG00733.hp2 HG01081.hp1 HG01109.hp2 HG01175.hp2 HG01515.hp1 HG01975.hp2 HG02145.hp1 HG02486.hp1 HG02559.hp2 HG02896.hp2 HG02970.hp2 HG03098.hp2 HG03195.hp1 HG03654.hp1 HG03927.hp2 HG04184.hp1 NA19043.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0004 a0007c0006 a0001c0001 a0004c0004 a0007c0006	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0016 a0001c0001t0029 a0004c0004t0004 a0007c0006t0007	a0001c0001t0004g0002 a0001c0001t0004g0019 a0001c0001t0004g0020 others(13): Show a0001c0001t0004g0002 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0037 a0001c0001t0004g0056 a0001c0001t0005g0030 a0001c0001t0007g0124 a0001c0001t0016g0011 a0001c0001t0029g0049 a0004c0004t0004g0013 a0004c0004t0004g0038 a0004c0004t0004g0046 a0007c0006t0007g0317	17	350	0.0486	-201	c.196 others(17): Show c.196+2449_196+2649del		SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5						chr10	TogoVar
SLC9A3_chr5_465456_529449	474173	AGAGGGGT others(194): Show AGAGGGGTTAGGCGGGGAGGGAGAGAGAGAACCAGGTTCCGGTCCAGGGA GGAGAGAGACAGCGCGCGCGAGGCGGAGACCTGGAGGAGAGGAGCTGCGG AGAGGGGTTAGGCGGGGAGAGAGAGAGAGCGAGCCAGGTTCAGGTCCAGG GAGGAGAGAGACAGCGCGCGCGAGGCGGAGACCTGGAGGGAGAGGAGCTG CG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA20129.hp1 HG02895.hp1 NA20129.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0013 a0005c0012t0013	a0005c0012t0013g0054 a0005c0012t0013g0132 a0005c0012t0013g0054 a0005c0012t0013g0132	2	216	0.0093	-201	c.250 others(17): Show c.2501+509_2501+709del		SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	16/16						chr5	TogoVar
TNK2_chr3_195858364_195913551	195880926	CCCCCAGC others(194): Show CCCCCAGCAATGCCCCTTGGAGAGGACACAGCGTCTATCCCTGTAACACC CGCCCCCAGCGATGCCCCTTGGAGAGGACACAGTGTCTATCCCTCTAACA CCACCCGCCAGCAATGCCCCTTGAAGAGGACACAGGATCTGTCCCTCTAA CACCCCCCCAGCAGTGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAA CA	C C	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01975.hp2 HG02129.hp2 others(10): Show HG01258.hp2 HG01975.hp2 HG02129.hp2 HG02572.hp1 HG02622.hp1 HG02976.hp2 HG03041.hp2 HG03225.hp2 HG03486.hp2 HG03540.hp2 HG03688.hp1 NA19030.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0003 a0001c0003t0013 a0001c0006t0001 a0001c0011t0001	a0001c0001t0001g0006 a0001c0001t0001g0107 a0001c0001t0001g0108 others(9): Show a0001c0001t0001g0006 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0002g0313 a0001c0003t0001g0156 a0001c0003t0003g0172 a0001c0003t0013g0355 a0001c0006t0001g0225 a0001c0011t0001g0226 a0001c0011t0001g0227	13	351	0.0370	-201	c.887 others(16): Show c.887+924_887+1124del		TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15						chr3	TogoVar
TPO_chr2_1408463_1548673	1443564	AGGGCAGG others(194): Show AGGGCAGGCTCCTTCTTGTTTGTATGATCCAGTCATTGCTGCAGGAGGTA CCATGTTGGAAGGGAACGGGGCAGGCTCGTTCTTGTTTGTATGATCCAGT CACTGCTGCAGGAGGCACCTTGTTGGAAGGGAATGGAGCTGGCTCCTTCT TGTTTGTATGATCCAGTCATTGCTGCGGGAGGCACCATGTTGGAAGGGAA TG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02015.hp1 HG03239.hp2 others(4): Show HG00741.hp1 HG02015.hp1 HG03239.hp2 HG04184.hp2 NA18962.hp1 NA19043.hp2 NA19058.hp1	a0003 a0006 a0007 others(1): Show a0003 a0006 a0007 a0019	a0003c0003 a0006c0026 a0007c0009 others(2): Show a0003c0003 a0006c0026 a0007c0009 a0007c0013 a0019c0017	a0003c0003t0005 a0006c0026t0003 a0007c0009t0003 others(4): Show a0003c0003t0005 a0006c0026t0003 a0007c0009t0003 a0007c0009t0006 a0007c0013t0007 a0007c0013t0012 a0019c0017t0002	a0003c0003t0005g0082 a0006c0026t0003g0052 a0007c0009t0003g0051 others(4): Show a0003c0003t0005g0082 a0006c0026t0003g0052 a0007c0009t0003g0051 a0007c0009t0006g0089 a0007c0013t0007g0118 a0007c0013t0012g0066 a0019c0017t0002g0023	7	128	0.0547	-201	c.482 others(17): Show c.482+7215_482+7415del		TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	5/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
TRABD_chr22_50180913_50204595	50186153	TAGCAGGT others(194): Show TAGCAGGTCGTGGGGGTCAGGCCCGGATCAGGTTCAGGTTTTGGGGCCGG GGGAGCAGGTCGTGGGGGTCAGGCCAGGGTCAGATTCAGGGTTTGGGGCT GGTAGACCAGGGTCGTTGGGGGCCGGGCCCGGGTCAGGTTTGGGGGCCGG GGTGGCAGGTCGTTGGGGGGGCCAGGCCCGGGTCAGGTTTTGGAGCCGGG GG	T T	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA20905.hp2 HG03688.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0134 a0001c0001t0001g0135	2	428	0.0047	-201	c.-35 others(15): Show c.-35+203_-35+403del		TRABD	ENSG00000170638.10	transcript	ENST00000380909.9	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr22	TogoVar
TXNDC16_chr14_52425596_52557505	52529938	ATATGAAT others(194): Show ATATGAATTATATATTACATATTATAATACATATAACAATATGTAATATA TAATTCATATATATAATATATATTATATATTATATGTTATAATTATTTTT ATGTAATTTATTTATACATTATATTTATATATTATATATTTATATTATGC ATTTATATATTATATATATTTATATTATATATATTTACATATTACAATTT AC	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	236	0.0042	-201	c.392 others(17): Show c.392+6580_392+6780del		TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20						chr14	TogoVar
ZNF516_chr18_76352682_76500242	76392812	AAGGCAGG others(194): Show AAGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGG TC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01358.hp2 HG02965.hp2 others(3): Show HG00741.hp2 HG01358.hp2 HG02965.hp2 HG03041.hp1 HG04204.hp2 NA19030.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0004 a0001c0005 a0001c0042 others(3): Show a0001c0004 a0001c0005 a0001c0042 a0002c0003 a0002c0009 a0004c0017	a0001c0004t0076 a0001c0005t0085 a0001c0042t0077 others(3): Show a0001c0004t0076 a0001c0005t0085 a0001c0042t0077 a0002c0003t0133 a0002c0009t0023 a0004c0017t0069	a0001c0004t0076g0304 a0001c0005t0085g0198 a0001c0042t0077g0129 others(3): Show a0001c0004t0076g0304 a0001c0005t0085g0198 a0001c0042t0077g0129 a0002c0003t0133g0098 a0002c0009t0023g0016 a0004c0017t0069g0305	6	267	0.0225	-201	c.181 others(21): Show c.1811-12710_1811-12510del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF787_chr19_56082366_56126295	56098516	AGCCGCAG others(194): Show AGCCGCAGGGTGATGCCACCAGGGTGATATGGCCGCCGGGTGATGGAGCC TAGGTGATACGGCCACCAGGTGATTACGGCCGCAGGGTGATGCCGCCCGG GTGATTACGGCCGCAGGGTGATACAGCCGCAGGGTGATGCCACCAGGGTG ATATGGCCGCCGGGTGATGGAGCCTAGGTGATACGGCCACCAGGTGATTA CG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(92): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01123.hp1 HG01175.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01975.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02165.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03098.hp1 HG03098.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03688.hp1 HG03831.hp1 HG04115.hp2 HG04199.hp2 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp2 NA18948.hp2 NA18951.hp2 NA18960.hp1 NA18962.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18987.hp2 NA18990.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19012.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19082.hp1 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0008	a0001c0001 a0002c0003 a0002c0006 others(4): Show a0001c0001 a0002c0003 a0002c0006 a0004c0004 a0005c0014 a0005c0027 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0054 a0001c0001t0057 a0001c0001t0062 a0001c0001t0064 a0001c0001t0069 a0001c0001t0070 a0001c0001t0076 a0001c0001t0080 a0001c0001t0081 a0001c0001t0085 a0001c0001t0086 a0002c0003t0001 a0002c0003t0016 a0002c0003t0032 a0002c0003t0034 a0002c0003t0061 a0002c0003t0074 a0002c0006t0001 a0002c0006t0002 a0002c0006t0007 a0002c0006t0063 a0002c0006t0068 a0004c0004t0001 a0005c0014t0002 a0005c0014t0083 a0005c0027t0001 a0008c0012t0002	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0025 others(79): Show a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0064 a0001c0001t0001g0186 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0244 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0282 a0001c0001t0001g0300 a0001c0001t0001g0316 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0024 a0001c0001t0002g0237 a0001c0001t0002g0254 a0001c0001t0002g0257 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0275 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0288 a0001c0001t0002g0314 a0001c0001t0003g0183 a0001c0001t0003g0272 a0001c0001t0006g0184 a0001c0001t0006g0185 a0001c0001t0006g0241 a0001c0001t0006g0263 a0001c0001t0006g0269 a0001c0001t0006g0270 a0001c0001t0007g0242 a0001c0001t0007g0259 a0001c0001t0007g0271 a0001c0001t0008g0260 a0001c0001t0010g0240 a0001c0001t0010g0273 a0001c0001t0011g0117 a0001c0001t0015g0027 a0001c0001t0035g0280 a0001c0001t0036g0238 a0001c0001t0036g0253 a0001c0001t0037g0251 a0001c0001t0038g0359 a0001c0001t0038g0360 a0001c0001t0054g0261 a0001c0001t0057g0187 a0001c0001t0062g0262 a0001c0001t0064g0243 a0001c0001t0069g0315 a0001c0001t0070g0250 a0001c0001t0076g0182 a0001c0001t0080g0236 a0001c0001t0081g0293 a0001c0001t0085g0358 a0001c0001t0086g0361 a0002c0003t0001g0089 a0002c0003t0001g0302 a0002c0003t0016g0067 a0002c0003t0016g0290 a0002c0003t0032g0246 a0002c0003t0034g0068 a0002c0003t0061g0285 a0002c0003t0074g0239 a0002c0006t0001g0092 a0002c0006t0002g0091 a0002c0006t0002g0093 a0002c0006t0007g0096 a0002c0006t0063g0090 a0002c0006t0068g0095 a0004c0004t0001g0258 a0005c0014t0002g0252 a0005c0014t0083g0264 a0005c0027t0001g0094 a0008c0012t0002g0022 a0008c0012t0002g0247	95	408	0.2328	-201	c.79+ others(15): Show c.79+4422_79+4622del		ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	2/2						chr19	TogoVar
ZZEF1_chr17_3999445_4148030	4089928	CTCAGCCT others(194): Show CTCAGCCTGAGACGCCCTCCTCCACACACTGCAGCCTGGCTAAGGATGCT GTGTTCTCAACTATTCTCTCAGCCTGAGACGCCCTCCTCCACACACTGCA GCCTGGCTAAGGATGCTGTGTTCTCAACTATTCTCTCAGCCTGAGACGCC CTCCTCCACACACTGCAGCCTGGCTAAGGATGCTGTGTTCTCAACTATTC TG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00733.hp2 HG01070.hp2 others(68): Show HG00408.hp2 HG00733.hp2 HG01070.hp2 HG01074.hp1 HG01255.hp1 HG01261.hp2 HG01517.hp2 HG01934.hp2 HG02015.hp2 HG02055.hp1 HG02129.hp1 HG02135.hp1 HG02165.hp2 HG02258.hp1 HG02451.hp1 HG02683.hp2 HG02738.hp1 HG02818.hp1 HG02922.hp1 HG02965.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03516.hp2 HG03654.hp1 HG04115.hp2 HG04204.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18955.hp1 NA18957.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18978.hp1 NA18979.hp2 NA18983.hp2 NA18986.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA19007.hp1 NA19011.hp2 NA19054.hp2 NA19057.hp1 NA19060.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp2 NA19079.hp1 NA19081.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1	a0002 a0007 a0023 others(2): Show a0002 a0007 a0023 a0025 a0029	a0002c0002 a0002c0004 a0002c0012 others(9): Show a0002c0002 a0002c0004 a0002c0012 a0002c0014 a0002c0021 a0002c0029 a0002c0030 a0002c0031 a0007c0006 a0023c0032 a0025c0033 a0029c0028	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(15): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0012 a0002c0002t0014 a0002c0002t0029 a0002c0004t0001 a0002c0004t0002 a0002c0012t0002 a0002c0014t0002 a0002c0021t0003 a0002c0029t0028 a0002c0030t0002 a0002c0031t0002 a0007c0006t0005 a0023c0032t0002 a0025c0033t0003 a0029c0028t0002	a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 others(68): Show a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0149 a0002c0002t0001g0194 a0002c0002t0002g0148 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0190 a0002c0002t0003g0179 a0002c0002t0003g0180 a0002c0002t0003g0181 a0002c0002t0003g0182 a0002c0002t0003g0183 a0002c0002t0003g0184 a0002c0002t0012g0291 a0002c0002t0014g0003 a0002c0002t0014g0004 a0002c0002t0029g0258 a0002c0004t0001g0143 a0002c0004t0001g0147 a0002c0004t0002g0150 a0002c0004t0002g0151 a0002c0004t0002g0152 a0002c0004t0002g0153 a0002c0004t0002g0154 a0002c0004t0002g0156 a0002c0004t0002g0158 a0002c0004t0002g0159 a0002c0004t0002g0164 a0002c0004t0002g0171 a0002c0004t0002g0172 a0002c0004t0002g0175 a0002c0004t0002g0177 a0002c0004t0002g0188 a0002c0004t0002g0193 a0002c0004t0002g0207 a0002c0012t0002g0213 a0002c0012t0002g0214 a0002c0012t0002g0215 a0002c0012t0002g0216 a0002c0012t0002g0217 a0002c0014t0002g0185 a0002c0014t0002g0186 a0002c0014t0002g0187 a0002c0021t0003g0204 a0002c0021t0003g0205 a0002c0029t0028g0191 a0002c0030t0002g0176 a0002c0031t0002g0192 a0007c0006t0005g0195 a0007c0006t0005g0196 a0007c0006t0005g0197 a0007c0006t0005g0198 a0007c0006t0005g0199 a0007c0006t0005g0200 a0007c0006t0005g0201 a0007c0006t0005g0202 a0007c0006t0005g0203 a0023c0032t0002g0170 a0025c0033t0003g0178 a0029c0028t0002g0155	71	294	0.2415	-201	c.202 others(17): Show c.2025+590_2025+790del		ZZEF1	ENSG00000074755.15	transcript	ENST00000381638.7	protein_coding	12/54						chr17	TogoVar
ZZEF1_chr17_3999445_4148030	4089959	CAGCCTGG others(194): Show CAGCCTGGCTAAGGATGCTGTGTTCTCAACTATTCTCTCAGCCTGAGACG CCCTCCTCCACACACTGCAGCCTGGCTAAGGATGCTGTGTTCTCAACTAT TCTCTCAGCCTGAGACGCCCTCCTCCACACACTGCAGCCTGGCTAAGGAT GCTGTGTTCTCAACTATTCTGTCAGCCTGAGACGCCCTCCTCCACACACT GT	C C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0189 a0002c0002t0002g0189	1	283	0.0035	-201	c.202 others(17): Show c.2025+559_2025+759del		ZZEF1	ENSG00000074755.15	transcript	ENST00000381638.7	protein_coding	12/54						chr17	TogoVar
ABR_chr17_998519_1184981	1054470	AGGGGATG others(193): Show AGGGGATGGGGGCACAAGGAACCTCAAAGGGATGGGGATACAAGGAACCT CAGGGGATGGGGGCACAAAGAACCTGAGGGGACGGGGGCACAAAGAACCT GAGGGGATGGGGGCACAAGGAACCTGAGGGGATGGGGGCACAAGGAACCT CAGGGGATGTGGGCACAAGGAACCTCAGGGGATGGGGGCACAAGGAACCT G	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0069 a0001c0002t0053g0069	1	336	0.0030	-200	c.156 others(19): Show c.1561+1365_1561+1564del		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22						chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288210	TCTGCTCC others(193): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	282	0.0035	-200	c.51 others(11): Show c.5154_*5353del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					4180		chr1	TogoVar
ANAPC10_chr4_144989576_145103196	145038821	CAAAAAAA others(193): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCTAACTAAGGCAAAACCTA TAAGAAGCAGGCAACAAATTCAACAGATACTTCTGATGACGAGACATCAC TTTCTACAGAGAAAAATAGGTCACATGCAAAGCATCAGAAATCAAAAGTG GCATTGTATTTCTCAACATTTACAATAAAAACAATGTCTCAAAAAAAAAA A	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	67	0.0149	-200	c.327 others(19): Show c.327+25551_327+25750del		ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4						chr4	TogoVar
ANGPT1_chr8_107244482_107502918	107368450	GTATTCCT others(193): Show GTATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT ATATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT ATATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT ATATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT A	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02970.hp2 HG03139.hp1 others(1): Show HG01109.hp1 HG02970.hp2 HG03139.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0027 a0001c0001t0010 a0001c0001t0027	a0001c0001t0010g0010 a0001c0001t0010g0093 a0001c0001t0010g0182 others(1): Show a0001c0001t0010g0010 a0001c0001t0010g0093 a0001c0001t0010g0182 a0001c0001t0027g0227	4	9	0.4444	-200	c.298 others(19): Show c.298-21553_298-21354del		ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8						chr8	TogoVar
AP3D1_chr19_2095988_2156566	2128783	GCCCCCGC others(193): Show GCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGC TCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTG CACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCAACACTGCACCCCGTGG AGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCG C	G G	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA18747.hp2 NA18975.hp1 others(4): Show HG02293.hp1 NA18747.hp2 NA18975.hp1 NA18977.hp1 NA18989.hp2 NA18994.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0002 a0001c0005t0002 a0001c0001t0001 a0001c0003t0002 a0001c0005t0002	a0001c0001t0001g0114 a0001c0001t0001g0150 a0001c0001t0001g0177 others(4): Show a0001c0001t0001g0114 a0001c0001t0001g0150 a0001c0001t0001g0177 a0001c0003t0002g0049 a0001c0005t0002g0022 a0001c0005t0002g0040 a0001c0005t0002g0045	7	290	0.0241	-200	c.806 others(15): Show c.806+107_806+306del		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31						chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128830	AGCTCCGA others(193): Show AGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACA CTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCAACACTGCACCCCG TGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGC CCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGC C	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03579.hp1 HG02622.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0006 a0001c0023t0005 a0001c0001t0006 a0001c0023t0005	a0001c0001t0006g0124 a0001c0023t0005g0060 a0001c0001t0006g0124 a0001c0023t0005g0060	2	361	0.0055	-200	c.806 others(14): Show c.806+60_806+259del		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31						chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128868	GCCGCTCC others(193): Show GCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCAA CACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCC CGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCG GCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCC A	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18967.hp2 NA18954.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0163 a0001c0004t0002g0247 a0001c0001t0001g0163 a0001c0004t0002g0247	2	324	0.0062	-200	c.806 others(14): Show c.806+22_806+221del		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31						chr19	TogoVar
APOA4_chr11_116815700_116828304	116818336	TATATATA others(193): Show TATATATATGAATTATATATGAATATATATATGAATATATATGAATATAT ATATGAATATATATATGAATATATATGAATTTATATATGAATATATATGA ATTTATATATGAATATATATATGAATATATATGAATTTATATATGAATTA TATATGAATATATATGAATATATATGAATATATATATGAATTATATATGA A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0008 a0001c0006t0001g0008	1	451	0.0022	-200	c.23 others(11): Show c.2331_*2530del		APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding					2363		chr11	TogoVar
ARHGAP24_chr4_85470150_86007666	85875058	TTTGTTTT others(193): Show TTTGTTTTATATATTATATTATATATAATATATTTATCTTATATATTATA TTATATATAATATATTTATCTTATATATTATATTATATATAATATATTTA TCTTATATATTATATTATATATAATATATTTATCTTATATATTATATTAT ATATAATATATTTATCTTATATATTATATTATATATAATATATTTATCTT A	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	60	0.0167	-200	c.269 others(19): Show c.269-48588_269-48389del		ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP24_chr4_85470150_86007666	85875089	ATTTATCT others(193): Show ATTTATCTTATATATTATATTATATATAATATATTTATCTTATATATTAT ATTATATATAATATATTTATCTTATATATTATATTATATATAATATATTT ATCTTATATATTATATTATATATAATATATTTATCTTATATATTATATTA TATATAATATATTTATCTTATATATTATATTATATATAATATATTTATCT T	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0090 a0005c0010t0001g0090	1	79	0.0127	-200	c.269 others(19): Show c.269-48558_269-48359del		ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	3/9						chr4	TogoVar
ATP10A_chr15_25673712_25868327	25757885	CCTAACTC others(193): Show CCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAT CACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCAT TCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTA A	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18945.hp1 HG01496.hp1 NA18945.hp1	a0004 a0027 a0004 a0027	a0004c0004 a0027c0040 a0004c0004 a0027c0040	a0004c0004t0001 a0027c0040t0001 a0004c0004t0001 a0027c0040t0001	a0004c0004t0001g0111 a0027c0040t0001g0033 a0004c0004t0001g0111 a0027c0040t0001g0033	2	284	0.0070	-200	c.655 others(19): Show c.655-21944_655-21745del		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20						chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758333	CCTAACTC others(193): Show CCTAACTCATTCCGACCACCTGATCCACCCTAACTCATTCCAATCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGAT CACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCAT TCCGACCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTA A	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0111 a0004c0004t0001g0111	1	289	0.0035	-200	c.655 others(19): Show c.655-22392_655-22193del		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20						chr15	TogoVar
BRPF3_chr6_36191744_36237790	36236224	CACATGTG others(193): Show CACATGTGATCCTATTTTTCTGGTACACCAAGGCAAGAACCCAGGATACA GAAAGCCCTCTGTCCTTGTGATAAGGCAGAGGGCCTAATTAAGCTGATTA ACACAAGCTGTCTGCGGATGGCTAAACTAGAAGAGCATAATGTAACACAC ACCCACTGGGGCTTGGGGAGCTGTAAACACTCAAACCTTAGACGCTGCAG T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	334	0.0030	-200	c.56 others(11): Show c.5616_*5815del		BRPF3	ENSG00000096070.19	transcript	ENST00000357641.10	protein_coding					3435		chr6	TogoVar
CAMKK1_chr17_3855315_3898053	3868006	CGGGCTCT others(193): Show CGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAACTGATACACAGGATCTGG GGGAGAAGCAGGCGCAGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCA GGCGCCGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGGCGCCGTCT AACTGATACGTGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAACTGATACG T	C C	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0150 a0001c0002t0004g0150	1	343	0.0029	-200	c.134 others(19): Show c.1341+1281_1341+1480del		CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15						chr17	TogoVar
CAMKK1_chr17_3855315_3898053	3868050	ATCTGGGG others(193): Show ATCTGGGGGAGAAGCAGGCGCAGTCTAACTGATACGTGGGCTCTGGGGGA GAAGCAGGCGCCGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGGCG CCGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAACT GATACGTGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAACTGATACGTGGG C	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0154 a0002c0001t0004g0154	1	364	0.0027	-200	c.134 others(19): Show c.1341+1237_1341+1436del		CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15						chr17	TogoVar
CAMKK1_chr17_3855315_3898053	3868071	AGTCTAAC others(193): Show AGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAACTG ATACGTGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAACTGATACGTGGGC TCTGGGGGAGAAGCAGGCGCCGTCTAACTGATACGTGGGCTCTGGGGGAG AAGCAGGCGCCGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGGCGC C	A A	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0308 a0001c0002t0003g0308	1	161	0.0062	-200	c.134 others(19): Show c.1341+1216_1341+1415del		CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15						chr17	TogoVar
CDH4_chr20_61247261_61945617	61944819	GACGACGA others(193): Show GACGACGAGGAGCACTGCGACCATCTGCACCGTGGCCGCCCCTTCTCACT GACGATGAGGAGCACTGCGACTGTCTGCACCGTGGCCGCCCCTTCTCACC GACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACT GACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCCCCTTCTCACC A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0038 a0001c0007t0009g0038	1	93	0.0108	-200	c.78 others(11): Show c.7877_*8076del		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding					4203		chr20	TogoVar
CDH4_chr20_61247261_61945617	61945141	GTCTGCAC others(193): Show GTCTGCACCGTGGCCGCCCCTTCTCACCAACGATGAGGAGCATCGCGGCT GTCTGCACCATGGGAGCCCCTTCTCACTGACAATGAGGAGCATTCAGAGT GTCTACACCGTGGCCACGCCTTCTCACCGATGCTGAGGAGCACCGAGACT GTCTGCACTGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACC A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01123.hp2 HG02451.hp1 others(3): Show HG00639.hp2 HG01123.hp2 HG02451.hp1 HG02451.hp2 HG02723.hp2 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0014 a0001c0001 a0001c0003 a0002c0014	a0001c0001t0002 a0001c0001t0017 a0001c0001t0030 others(2): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0030 a0001c0003t0001 a0002c0014t0001	a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0017g0039 others(3): Show a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0017g0039 a0001c0001t0030g0089 a0001c0003t0001g0015 a0002c0014t0001g0090	6	106	0.0566	-200	c.81 others(11): Show c.8199_*8398del		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding					4525		chr20	TogoVar
CDH4_chr20_61247261_61945617	61945200	ATGGGAGC others(193): Show ATGGGAGCCCCTTCTCACTGACAATGAGGAGCATTCAGAGTGTCTACACC GTGGCCACGCCTTCTCACCGATGCTGAGGAGCACCGAGACTGTCTGCACT GTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCATCTGCACC GTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACTGTCTGCACC G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 NA19240.hp2 HG03927.hp1 NA19240.hp2	a0002 a0005 a0002 a0005	a0002c0005 a0005c0019 a0002c0005 a0005c0019	a0002c0005t0002 a0005c0019t0001 a0002c0005t0002 a0005c0019t0001	a0002c0005t0002g0060 a0005c0019t0001g0018 a0002c0005t0002g0060 a0005c0019t0001g0018	2	101	0.0198	-200	c.82 others(11): Show c.8258_*8457del		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding					4584		chr20	TogoVar
CENPE_chr4_103100811_103203343	103112866	GTACATAT others(193): Show GTACATATATACTTATAAGTATATAAGTGTACATATATACTTATAAGTAT ATAAGTGTACATATATACTTATAAGTATATAAGTGTATATATATACTTAT AAGTATATAAGTGTATATATATACTTATAAGTATATAAGTGTATATATAT ACTTATAAGTATATAAGTGTATATATATACTTATAAGTATATAAGTGTAT A	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03195.hp2 HG03579.hp1 HG02615.hp2 HG03195.hp2 HG03579.hp1	a0001 a0004 a0001 a0004	a0001c0007 a0004c0012 a0001c0007 a0004c0012	a0001c0007t0001 a0004c0012t0001 a0001c0007t0001 a0004c0012t0001	a0001c0007t0001g0095 a0001c0007t0001g0099 a0004c0012t0001g0097 a0001c0007t0001g0095 a0001c0007t0001g0099 a0004c0012t0001g0097	3	318	0.0094	-200	c.754 others(19): Show c.7540+1389_7540+1588del		CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48						chr4	TogoVar
CLCN7_chr16_1439935_1480028	1457328	TCGGCCCT others(193): Show TCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGAC G	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	NA19079.hp1 NA19079.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0021 a0003c0013t0021	a0003c0013t0021g0056 a0003c0013t0021g0056	1	396	0.0025	-200	c.738 others(11): Show c.738+166_747del	p.Glu others(13): Show p.Glu247_Met250del	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	9/25	801/4168	739/2418	247/805			chr16	TogoVar
CNTNAP2_chr7_146111801_148425998	148365909	CGTGTATG others(193): Show CGTGTATGCATGTATACATGCGTGTATGCATGTATACATGCGTGTATGCA TGTATACATGTGTGTATGCATGTATACATGTGTGTATGCATGTATGCATG TGTGTATGCATGTATGCATGTGTGTGTATGCATGTATGCATGTGTGTGTA TGCATGTATGCATGTATGTGTGTGCATGTATACATGTATGTGTATGCATG T	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0004t0003g0035 a0001c0004t0003g0036	2	29	0.0690	-200	c.347 others(21): Show c.3476-17739_3476-17540del		CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23						chr7	TogoVar
COL18A1_chr21_45400165_45518720	45437728	GCACACAC others(193): Show GCACACACACACTCACACACTCAGACACAGGCACTCTCCTGCACACACAC ACACTCACTCACACACAGACACACAGGCACTCTCCTGCACACACTCACAC TCAGACAAGCACTCTCCTGCACACACTCACACTCACACTCAGACACACAG GCACTCTCCTGCACACACACACTCACTCAGACACAGGCACTCTCCTGCAC A	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01496.hp1 HG02451.hp1 others(5): Show HG01261.hp2 HG01496.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG03225.hp2 HG06807.hp1 NA19240.hp1	a0001 a0003 a0017 a0001 a0003 a0017	a0001c0001 a0001c0003 a0001c0060 others(2): Show a0001c0001 a0001c0003 a0001c0060 a0003c0088 a0017c0089	a0001c0001t0001 a0001c0003t0001 a0001c0003t0016 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0016 a0001c0060t0001 a0003c0088t0001 a0017c0089t0011	a0001c0001t0001g0136 a0001c0003t0001g0041 a0001c0003t0001g0179 others(5): Show a0001c0001t0001g0136 a0001c0003t0001g0041 a0001c0003t0001g0179 a0001c0003t0001g0192 a0001c0003t0016g0185 a0001c0060t0001g0142 a0003c0088t0001g0024 a0017c0089t0011g0193	8	275	0.0291	-200	c.107 others(19): Show c.107-30502_107-30303del		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
CROCC2_chr2_240901336_240998311	240908645	GGTGAGCT others(193): Show GGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGG GGTGACCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGG GGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCA GGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGG C	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0002 a0001c0022t0002	a0001c0022t0002g0239 a0001c0022t0002g0239	1	348	0.0029	-200	c.78+ others(15): Show c.78+2102_78+2301del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP4F11_chr19_15907377_15939529	15931681	CGAGGAGA others(193): Show CGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG T	C C	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0242 a0001c0002t0001g0242	1	227	0.0044	-200	c.199 others(17): Show c.199-2280_199-2081del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932063	AGGAGAAG others(193): Show AGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTG G	A A	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0293 a0001c0002t0028g0293	1	316	0.0032	-200	c.198 others(17): Show c.198+1948_198+2147del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar

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