Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PSMF1_chr20_1113602_1177246	1149984	CACTGTAC others(148): Show CACTGTACTCCAGCCTGGGCAACATGGTGAAACTCTGTCTCTATAAATTA GCTGGATGTGGTGGTGTGACCCTGGAGTCCCAACTACTTGAGAGGCTGAG GTGGGAGGATTGCTTGAGCCCAGGAGGTGGAGGTTGTGGTGAGCCATGAT CACACT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01257.hp2 HG01258.hp2 others(2): Show HG01109.hp1 HG01257.hp2 HG01258.hp2 HG02622.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0016 a0001c0001t0044 a0001c0001t0006 a0001c0001t0016 a0001c0001t0044	a0001c0001t0006g0015 a0001c0001t0016g0150 a0001c0001t0016g0152 others(1): Show a0001c0001t0006g0015 a0001c0001t0016g0150 a0001c0001t0016g0152 a0001c0001t0044g0148	5	326	0.0153	-155	c.552 others(19): Show c.552-13122_552-12968del	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
RASA3_chr13_113972783_114137623	114099759	GCCCCCCA others(148): Show GCCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGC CCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCAGCCCCCCCACAGCC CCCCACAGCAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCGTAGCCCCC ACCCCA	G G	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	67	0.0149	-155	c.56- others(17): Show c.56-26077_56-25923del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASGEF1C_chr5_180095795_180214211	180096156	TCCTTCCT others(148): Show TCCTTCCTCCCTTCCTGTCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTG TCTTCCTCCCTTCCTTCCCTCCTTCCCTCCCTCCCTTCCTTCCTGTCTTC CTTCCTTCCTTCCTGTCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTGTC TTCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02615.hp1 HG02717.hp2 others(9): Show HG02451.hp1 HG02615.hp1 HG02717.hp2 HG02723.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03098.hp2 HG03225.hp1 HG03540.hp1 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0011 others(1): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0011 a0001c0002t0080	a0001c0002t0001g0206 a0001c0002t0001g0323 a0001c0002t0008g0340 others(9): Show a0001c0002t0001g0206 a0001c0002t0001g0323 a0001c0002t0008g0340 a0001c0002t0008g0342 a0001c0002t0008g0343 a0001c0002t0008g0346 a0001c0002t0008g0351 a0001c0002t0008g0355 a0001c0002t0008g0360 a0001c0002t0011g0101 a0001c0002t0011g0102 a0001c0002t0080g0362	12	370	0.0324	-155	c.51 others(11): Show c.5190_*5344del	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding		4638		chr5	TogoVar
RBFOX3_chr17_79084345_79616051	79129366	ACCTGCTG others(148): Show ACCTGCTGCTACCTGACAGGTATGGACTGCTTTCCAATCCGGAGTAAGAG GGTGTGCCCTAGAGACCCAGGGGAGGAAGGAGGGGTGGGCAGCAGGACAA CGCTCTCTCCTTCCCCCAAGCCCCCCAGGCTCCTGCTGAGCCAGTTGTCC AGGCTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00642.hp1 others(10): Show HG00140.hp1 HG00639.hp2 HG00642.hp1 HG01109.hp1 HG01255.hp2 HG01346.hp1 HG02004.hp2 HG02258.hp2 HG02300.hp2 HG02895.hp2 HG03130.hp1 HG03239.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0013 others(10): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0003g0014 a0001c0001t0004g0097 a0001c0001t0006g0116 a0001c0001t0016g0019 a0001c0001t0019g0038 a0001c0001t0020g0030 a0001c0001t0021g0026 a0001c0002t0001g0063 a0001c0002t0002g0153	13	154	0.0844	-155	c.-33 others(19): Show c.-33-13773_-33-13619del	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RGPD8_chr2_112363369_112438645	112433151	CGCCGCCT others(148): Show CGCCGCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCATGA CCCCTGACCCATCGAGGCCGCCGCCGGGCCGGGTGGAGGCCGCCGCCTCA ACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCATGACCCCTGACCC ATCGAG	C C	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01943.hp1 HG01993.hp1 others(1): Show HG01928.hp1 HG01943.hp1 HG01993.hp1 HG02293.hp2	a0002 a0034 a0002 a0034	a0002c0002 a0034c0042 a0002c0002 a0034c0042	a0002c0002t0001 a0034c0042t0001 a0002c0002t0001 a0034c0042t0001	a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0239 others(1): Show a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0239 a0034c0042t0001g0238	4	254	0.0158	-155	c.72+ others(12): Show c.72+76_72+230del	RGPD8	ENSG00000169629.12	transcript	ENST00000302558.8	protein_coding	1/22			chr2	TogoVar
RGS20_chr8_53846795_53964303	53948641	ATATATAA others(148): Show ATATATAAGATACAGTACATATTTACATATGCTATATAAGATACAGTACA TATTTACATATGCTATATAAGATACAGTACATATTTACATATGCTATATA AGATACAGTACATATTTACATATGCTATATAAGATACAGTACATATTTAC ATATGC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02486.hp1 HG02559.hp2 others(1): Show HG00609.hp2 HG02486.hp1 HG02559.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0049 a0001c0001t0002g0243 a0001c0001t0002g0245 others(1): Show a0001c0001t0001g0049 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0246	4	258	0.0155	-155	c.743 others(17): Show c.743+2096_743+2250del	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RHPN1_chr8_143363876_143389221	143373491	CGCGGGTT others(148): Show CGCGGGTTCCAGGGGACGGGGCGGGGGCTTGGGGGATGGTGTGGGTTCCA GGGGACGGGGCGGGGATTTGGGGGATGGCGTGGGTTCCAGGGGACGGTGT GGGGGTTTGGGGATGGCGCGGGTTCCAGGGGACGGGGCGGGGATTTGGGG GATGGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG01891.hp1 others(38): Show HG01109.hp1 HG01884.hp1 HG01891.hp1 HG01975.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03540.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0006 a0006c0013 a0001c0001 a0003c0006 a0006c0013	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 others(3): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0020 a0003c0006t0005 a0006c0013t0007	a0001c0001t0005g0014 a0001c0001t0005g0016 a0001c0001t0005g0032 others(21): Show a0001c0001t0005g0014 a0001c0001t0005g0016 a0001c0001t0005g0032 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0005g0078 a0001c0001t0005g0079 a0001c0001t0005g0081 a0001c0001t0005g0082 a0001c0001t0005g0084 a0001c0001t0007g0013 a0001c0001t0007g0019 a0001c0001t0007g0046 a0001c0001t0007g0124 a0001c0001t0007g0125 a0001c0001t0007g0126 a0001c0001t0007g0128 a0001c0001t0007g0129 a0001c0001t0007g0130 a0001c0001t0008g0117 a0001c0001t0020g0123 a0003c0006t0005g0077 a0003c0006t0005g0083 a0006c0013t0007g0127	41	426	0.0962	-155	c.61- others(15): Show c.61-2060_61-1906del	RHPN1	ENSG00000158106.14	transcript	ENST00000289013.11	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
RHPN1_chr8_143363876_143389221	143373559	TGGGGGAT others(148): Show TGGGGGATGGCGTGGGTTCCAGGGGACGGTGTGGGGGTTTGGGGATGGCG CGGGTTCCAGGGGACGGGGCGGGGATTTGGGGGATGGTGTGGGTTCCAGG GGACGGTGTGGGGGTTTGGGGATGGCGCGGGTTCCAGGGGACGGGGCGGG GATTTG	T T	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02559.hp2 HG02723.hp1 others(8): Show HG02300.hp2 HG02559.hp2 HG02723.hp1 HG02970.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp1 HG03516.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0009 a0001c0001t0029 a0001c0001t0031 others(1): Show a0001c0001t0009 a0001c0001t0029 a0001c0001t0031 a0001c0005t0009	a0001c0001t0009g0009 a0001c0001t0009g0027 a0001c0001t0029g0094 others(2): Show a0001c0001t0009g0009 a0001c0001t0009g0027 a0001c0001t0029g0094 a0001c0001t0031g0093 a0001c0005t0009g0009	11	426	0.0258	-155	c.61- others(15): Show c.61-1989_61-1835del	RHPN1	ENSG00000158106.14	transcript	ENST00000289013.11	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIPK1_chr6_3063494_3120187	3090826	ACCTACCT others(148): Show ACCTACCTGCCGCACCTAGTAACCGCAGAGTACCTACCTGCCGCACCTAG TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGC AGCGCG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03540.hp1 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0027 a0001c0002t0001g0323 a0001c0001t0001g0027 a0001c0002t0001g0323	2	340	0.0059	-155	c.915 others(17): Show c.915+1197_915+1351del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3090947	CGCGCCTA others(148): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0093 a0001c0002t0020g0093	1	340	0.0029	-155	c.915 others(17): Show c.915+1321_915+1475del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3090978	CGCGCCTA others(148): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00609.hp1 others(16): Show HG00140.hp2 HG00423.hp2 HG00609.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01934.hp1 HG02074.hp2 HG02083.hp2 HG02602.hp1 HG02735.hp2 NA18956.hp2 NA18980.hp1 NA18984.hp2 NA19003.hp1 NA19058.hp2 NA19068.hp1 NA19068.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0042 others(16): Show a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0001g0076 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0138 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0182 a0001c0001t0001g0220 a0001c0001t0001g0249 a0001c0001t0001g0285 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0005g0137	19	340	0.0559	-155	c.915 others(17): Show c.915+1352_915+1506del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091105	GCCTACCT others(148): Show GCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAG TAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACC TGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGC AGAGTA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG01433.hp1 others(15): Show HG00280.hp1 HG00438.hp2 HG01433.hp1 HG01515.hp1 HG02027.hp2 HG02040.hp1 HG02129.hp2 HG02293.hp2 HG02647.hp2 HG03017.hp2 HG03239.hp1 HG03453.hp1 HG03669.hp2 HG04199.hp1 NA18943.hp2 NA18964.hp2 NA19060.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0011 a0001c0001t0001g0086 a0001c0001t0001g0105 others(15): Show a0001c0001t0001g0011 a0001c0001t0001g0086 a0001c0001t0001g0105 a0001c0001t0001g0122 a0001c0001t0001g0165 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0001g0245 a0001c0001t0001g0270 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0314 a0001c0001t0002g0112 a0001c0002t0001g0228 a0001c0002t0002g0084 a0001c0002t0002g0143	18	340	0.0529	-155	c.915 others(17): Show c.915+1476_915+1630del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091195	AGCGCCTA others(148): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0099 a0001c0003t0007g0099	1	340	0.0029	-155	c.915 others(17): Show c.915+1600_915+1754del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091412	CGCGCCTA others(148): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGA	C C	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	340	0.0029	-155	c.915 others(17): Show c.915+1786_915+1940del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091629	AGCGCCTA others(148): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02922.hp2 HG02647.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0122 a0001c0001t0001g0037 a0001c0001t0001g0122	2	340	0.0059	-155	c.915 others(17): Show c.915+2034_915+2188del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091877	CGCGCCTA others(148): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp2 HG01074.hp1 others(39): Show HG00140.hp1 HG00741.hp2 HG01074.hp1 HG01099.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp2 HG01975.hp1 HG01975.hp2 HG02056.hp2 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02300.hp1 HG02622.hp2 HG02818.hp1 HG03239.hp2 HG03453.hp1 HG03540.hp2 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04199.hp1 HG04199.hp2 NA18951.hp1 NA18960.hp2 NA18969.hp1 NA18970.hp2 NA18980.hp2 NA18984.hp2 NA18994.hp1 NA19002.hp1 NA19002.hp2 NA19010.hp1 NA19058.hp2 NA19064.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0019 a0001c0001t0027 a0001c0002t0001 a0001c0002t0020 a0001c0003t0001	a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0071 others(39): Show a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0071 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0163 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0199 a0001c0001t0001g0211 a0001c0001t0001g0222 a0001c0001t0001g0255 a0001c0001t0001g0275 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0306 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0325 a0001c0001t0001g0338 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0005g0090 a0001c0001t0005g0141 a0001c0001t0005g0217 a0001c0001t0010g0111 a0001c0001t0019g0195 a0001c0001t0027g0169 a0001c0002t0001g0064 a0001c0002t0001g0228 a0001c0002t0020g0093 a0001c0003t0001g0200	42	340	0.1235	-155	c.915 others(17): Show c.915+2282_915+2436del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092032	AGCGCCTA others(148): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02027.hp2 HG02083.hp1 others(4): Show HG00558.hp1 HG02027.hp2 HG02083.hp1 HG02273.hp1 HG03834.hp2 NA18984.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0023 a0001c0001t0001 a0001c0001t0002 a0001c0002t0023	a0001c0001t0001g0102 a0001c0001t0001g0176 a0001c0001t0001g0286 others(4): Show a0001c0001t0001g0102 a0001c0001t0001g0176 a0001c0001t0001g0286 a0001c0001t0001g0292 a0001c0001t0001g0304 a0001c0001t0002g0112 a0001c0002t0023g0116	7	340	0.0206	-155	c.915 others(17): Show c.915+2406_915+2560del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092488	GAACCGCA others(148): Show GAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACC TGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	340	0.0029	-155	c.915 others(17): Show c.915+2840_915+2994del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092581	GAACCGCA others(148): Show GAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCA CCTAGT	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03710.hp2 HG03225.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0255 a0001c0002t0001g0235 a0001c0001t0001g0255 a0001c0002t0001g0235	2	340	0.0059	-155	c.915 others(17): Show c.915+2933_915+3087del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092621	CGCGCCTA others(148): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGA	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA19058.hp1 HG02040.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0316 a0001c0001t0001g0296 a0001c0001t0001g0316	2	340	0.0059	-155	c.915 others(17): Show c.915+2995_915+3149del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093201	TAACCGCA others(148): Show TAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACC TGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCA CCTAGG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03579.hp2 NA18940.hp2 others(4): Show HG02145.hp2 HG03579.hp2 NA18940.hp2 NA18970.hp1 NA18986.hp2 NA19003.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0074 a0001c0001t0001g0213 a0001c0001t0001g0214 others(4): Show a0001c0001t0001g0074 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0316 a0001c0002t0001g0206 a0001c0002t0001g0210	7	340	0.0206	-155	c.915 others(17): Show c.915+3573_915+3727del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093582	AGCGCCTA others(148): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGC	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03139.hp1 HG02886.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0236 a0001c0001t0001g0121 a0001c0001t0001g0236	2	340	0.0059	-155	c.915 others(17): Show c.915+4168_915+4322del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093830	CGCGCCTA others(148): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC TGCAGA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	340	0.0029	-155	c.915 others(17): Show c.915+4199_915+4353del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093957	GCCTACCT others(148): Show GCCTACCTGCCGCACCTAGTAACTGCAGAGCGCCTACCTGCCGCACCTAG TAACTGCAGCGCGCCTACCTGCCGCACCTAGTAACTGCAGCGCGCCTACC TGCCGCACCTAGTAACTGCAGCGCGCCTACCTCCTGCACCTAGTAACTGC AGAGTA	G G	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	340	0.0029	-155	c.915 others(17): Show c.915+4330_915+4484del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093988	GCCTACCT others(148): Show GCCTACCTGCCGCACCTAGTAACTGCAGCGCGCCTACCTGCCGCACCTAG TAACTGCAGCGCGCCTACCTGCCGCACCTAGTAACTGCAGCGCGCCTACC TCCTGCACCTAGTAACTGCAGAGTACCTACCTGCCGCACCTAGTAACTGC AGAGTA	G G	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0278 a0001c0001t0010g0278	1	340	0.0029	-155	c.915 others(17): Show c.915+4356_915+4510del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPOR3_chr20_50581108_50696542	50653499	AATCTTGG others(148): Show AATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTTTCCTG CCTCAGCCTCCTGAGATTACAGGCGTATGCCACCACACTTGGCTAATTTT TTTTTTTTTCGAGACAGGGTCTCCCTCTGTTGTCCATGCTAGAGTGCAGT GGTGCC	A A	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0258 a0002c0002t0001g0258	1	280	0.0036	-155	c.4-2 others(15): Show c.4-22798_4-22644del	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNASE10_chr14_20500537_20518884	20505736	CCCGTCTG others(148): Show CCCGTCTGGGAAGTGAGGAGCGTCTCTGCCTGGCCGCCCATCGTCTGGGA TACGAGGAGCCTCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTC TCTGCCCGGCCGCCATCCCATCTAGGAAGCGAGGAGCGCCTCTTCCCCGC CGCCAT	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00438.hp2 HG01106.hp1 HG01175.hp2 others(15): Show HG00438.hp2 HG01106.hp1 HG01175.hp2 HG01346.hp1 HG01934.hp1 HG02004.hp2 HG02071.hp2 HG02148.hp1 HG02647.hp1 HG03654.hp1 HG04115.hp1 HG04204.hp1 NA18943.hp1 NA18971.hp2 NA18977.hp1 NA19088.hp1 NA20300.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0011 a0001c0001t0012 a0001c0001t0035 others(2): Show a0001c0001t0011 a0001c0001t0012 a0001c0001t0035 a0001c0001t0062 a0003c0003t0065	a0001c0001t0011g0008 a0001c0001t0011g0029 a0001c0001t0011g0066 others(11): Show a0001c0001t0011g0008 a0001c0001t0011g0029 a0001c0001t0011g0066 a0001c0001t0011g0073 a0001c0001t0011g0074 a0001c0001t0011g0077 a0001c0001t0012g0012 a0001c0001t0012g0019 a0001c0001t0012g0078 a0001c0001t0012g0079 a0001c0001t0035g0030 a0001c0001t0035g0062 a0001c0001t0062g0061 a0003c0003t0065g0169	18	396	0.0455	-155	c.-28 others(9): Show c.-286_-132del	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/2	4579	INFO_REALIGN_3_PRIME	chr14	TogoVar
ROR2_chr9_91717601_91955228	91823340	TTTTTTTT others(148): Show TTTTTTTTTTTTCAAGACGGAATCTTGCTCTCTCGCCCAGGCTGGAGTGA CATGATCTCGGCCCACTGCAACCTCCACCTCCTAGGTTCAAGCAATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGATTGCCGGCGCATGCCACCACGCC AGCTGA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG03453.hp1 others(1): Show HG01243.hp1 HG02055.hp2 HG03453.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0014 a0003c0043 a0001c0014 a0003c0043	a0001c0014t0006 a0003c0043t0002 a0001c0014t0006 a0003c0043t0002	a0001c0014t0006g0147 a0001c0014t0006g0149 a0001c0014t0006g0152 others(1): Show a0001c0014t0006g0147 a0001c0014t0006g0149 a0001c0014t0006g0152 a0003c0043t0002g0011	4	226	0.0177	-155	c.98- others(17): Show c.98-47677_98-47523del	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
S1PR4_chr19_3173769_3185332	3174988	GCCTGTGC others(148): Show GCCTGTGCCCCTCATGGGACACCTGTGCCCTCATGGGACGCCTGTGCCCT CATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCATGGGACGCC TGTGCCCTCATGGGACGCCTGTGTTCTCATGGGACGCCTGTGCCCCTCAT GGGACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	-155	c.-38 others(11): Show c.-3804_-3650del	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		3780		chr19	TogoVar
SCN11A_chr3_38840764_39056944	38877020	TGTATATA others(148): Show TGTATATATATGGTATATATATGGTGTATATACTATATATATGGTATATA TATGGTGTATATACTATATATATGGTATATATATGGTGTATATACTATAT ATATGGTGTATATACTATATATATGGTATATATATGGTGTATATACTATA TATATG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp1 HG02976.hp1 others(2): Show HG02572.hp2 HG02717.hp1 HG02976.hp1 HG03130.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0003 a0001c0016t0001 a0001c0001t0003 a0001c0016t0001	a0001c0001t0003g0266 a0001c0001t0003g0277 a0001c0001t0003g0278 others(2): Show a0001c0001t0003g0266 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0284 a0001c0016t0001g0263	5	314	0.0159	-155	c.339 others(19): Show c.3393+2775_3393+2929del	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38877083	CTATATAT others(148): Show CTATATATATGGTATATATATGGTGTATATACTATATATATGGTGTATAT ACTATATATATGGTATATATATGGTGTATATACTATATATATGGTATATA TATGGTGTATATACTATATATATGGTATATATATGGTGTATATACTATAT ATATGG	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp1 HG02895.hp1 HG02896.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0260 a0001c0012t0001g0261 a0001c0012t0001g0260 a0001c0012t0001g0261	2	314	0.0064	-155	c.339 others(19): Show c.3393+2712_3393+2866del	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SDHA_chr5_213320_262082	258002	TTGTGAGC others(148): Show TTGTGAGCTCCACCCCCTGCCAGAGCATTACTGGGTGAGCTCCACCCCCT GCCAGAGCATTACTGTGTGAGCTCCGCCTCCTGCCATAGCATTACTGTGA GCTCCGCCTCCCGACAGCATTACCGTGTGAGCTCCGCCCCCGTTAGAGCA TTACTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG00738.hp2 HG01069.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0149 a0001c0002t0001g0002 a0001c0002t0001g0149	2	266	0.0075	-155	c.15 others(11): Show c.1583_*1737del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		921		chr5	TogoVar
SDHA_chr5_213320_262082	258176	CCAGAGCA others(148): Show CCAGAGCATTACTGGGTGAGCTCCACCCCCTGCCAGAGCATTACCGTGAG CTCCGCCCCCTGTCAGAGCATTACTGTGAGCTCCGCCCCATGTTAGAGCA TTACTATGTGAGCTCCGCCCCCTGCCAGAGCATTACTGTGAGCTCCGCCC CCCTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0111	1	266	0.0038	-155	c.17 others(11): Show c.1757_*1911del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		1095		chr5	TogoVar
SFTPD_chr10_79932740_79954105	79936080	TCCTGACA others(148): Show TCCTGACAGCATGATCCGCCTCCCAGGTTCACACCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGTCCACCACCGCGCCCAGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTTCACCTGACAGGG GTTTCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(285): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19088.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(5): Show a0001 a0002 a0005 a0006 a0008 a0010 a0012 a0013	a0001c0001 a0001c0011 a0001c0014 others(10): Show a0001c0001 a0001c0011 a0001c0014 a0002c0003 a0002c0005 a0002c0008 a0002c0020 a0005c0006 a0006c0007 a0008c0019 a0010c0017 a0012c0013 a0013c0012	a0001c0001t0001 a0001c0011t0001 a0001c0014t0001 others(10): Show a0001c0001t0001 a0001c0011t0001 a0001c0014t0001 a0002c0003t0001 a0002c0005t0001 a0002c0008t0001 a0002c0020t0001 a0005c0006t0001 a0006c0007t0001 a0008c0019t0001 a0010c0017t0001 a0012c0013t0001 a0013c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(56): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0011t0001g0071 a0001c0011t0001g0085 a0001c0014t0001g0040 a0002c0003t0001g0004 a0002c0003t0001g0005 a0002c0003t0001g0011 a0002c0003t0001g0024 a0002c0003t0001g0026 a0002c0003t0001g0033 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0055 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0001g0066 a0002c0005t0001g0014 a0002c0005t0001g0025 a0002c0005t0001g0028 a0002c0005t0001g0053 a0002c0005t0001g0054 a0002c0008t0001g0010 a0002c0020t0001g0070 a0005c0006t0001g0020 a0005c0006t0001g0021 a0005c0006t0001g0029 a0005c0006t0001g0086 a0006c0007t0001g0009 a0008c0019t0001g0049 a0010c0017t0001g0045 a0012c0013t0001g0035 a0013c0012t0001g0034	288	424	0.6793	-155	c.16 others(11): Show c.1617_*1771del	SFTPD	ENSG00000133661.17	transcript	ENST00000372292.8	protein_coding		1659		chr10	TogoVar
SH3BP4_chr2_234947017_235060714	235038238	TTATATAT others(148): Show TTATATATATATTATATATAATATATATTATATATAATATATATTATATA TAATATATATATTATATATATATATTATATATTATATATATATTATATAT AGTATATATATTTTATATATATATATATAATATATATACATATATATATA TATATA	T T	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18990.hp1 NA18989.hp1 NA18990.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0299 a0001c0002t0002g0301 a0001c0002t0002g0299 a0001c0002t0002g0301	2	348	0.0058	-155	c.119 others(17): Show c.119-2638_119-2484del	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SIGIRR_chr11_400716_419999	401229	GCCCCGCT others(148): Show GCCCCGCTCACACCCGGCCCCGTTCACACCCGCCCCGCTCACACCCGCCC CGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTC ACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACC CCCGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0024 a0003c0008t0001g0024	1	242	0.0041	-155	c.45 others(11): Show c.4512_*4666del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4486		chr11	TogoVar
SLC66A2_chr18_79897420_79956653	79921638	AGTGAGGA others(148): Show AGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAGA TGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGG AGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGG TCAGTG	A A	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	352	0.0028	-155	c.392 others(17): Show c.392-2393_392-2239del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC9A3_chr5_465456_529449	481882	GCCCCCCC others(148): Show GCCCCCCCCCGCCCCCCAGCCCCGCACGTATGGCGGCCTCCTCTCCCCTC CTGGCCCAGCCCCAAGGAACACACGGTGCCCTCCGCCACCCCCCAAGCCC CAGACCAACGCAGCCTCCTCTCCCCTCTCAGCCCAGCCCCGAGGAACACG CAGTGC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG00735.hp2 others(19): Show HG00323.hp2 HG00642.hp2 HG00735.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01243.hp1 HG01261.hp1 HG02004.hp2 HG02922.hp2 HG03688.hp2 HG04115.hp1 HG04115.hp2 NA18954.hp2 NA18957.hp1 NA18983.hp2 NA19002.hp1 NA19081.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0008 a0009	a0001c0001 a0001c0003 a0001c0007 others(9): Show a0001c0001 a0001c0003 a0001c0007 a0001c0009 a0001c0019 a0001c0026 a0001c0030 a0002c0005 a0002c0006 a0006c0015 a0008c0023 a0009c0022	a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 others(12): Show a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0003t0008 a0001c0007t0001 a0001c0009t0008 a0001c0009t0009 a0001c0019t0009 a0001c0026t0012 a0001c0030t0008 a0002c0005t0016 a0002c0006t0006 a0006c0015t0007 a0008c0023t0007 a0009c0022t0005	a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0007g0035 others(19): Show a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0007g0035 a0001c0001t0011g0154 a0001c0001t0012g0182 a0001c0003t0008g0038 a0001c0003t0008g0039 a0001c0003t0008g0112 a0001c0003t0008g0118 a0001c0003t0008g0152 a0001c0007t0001g0043 a0001c0007t0001g0045 a0001c0009t0008g0151 a0001c0009t0009g0090 a0001c0019t0009g0008 a0001c0026t0012g0212 a0001c0030t0008g0150 a0002c0005t0016g0002 a0002c0006t0006g0177 a0006c0015t0007g0004 a0008c0023t0007g0147 a0009c0022t0005g0210	22	218	0.1009	-155	c.144 others(16): Show c.1446+31_1446+185del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	8/16			chr5	TogoVar
SMYD3_chr1_245744347_246512279	246251663	TCGGACAC others(148): Show TCGGACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCT TTAGTAGGTGCCTCGGACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACA CTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGTAG GTGCCG	T T	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	150	0.0067	-155	c.531 others(19): Show c.531+75383_531+75537del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246251911	TCGGACAC others(148): Show TCGGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGACACTGTGCCCGGCT TTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGACA CTGTGCCCGGCTTTAGTAGGTGCCTCGGACACTGTGCCCGGCTTTAGTAG GTGCCG	T T	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02165.hp1 HG03491.hp1 HG02132.hp1 HG02165.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0002g0039 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0002g0039	3	150	0.0200	-155	c.531 others(19): Show c.531+75135_531+75289del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246252004	TCGGACAC others(148): Show TCGGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGACACTGTGCCCGGCT TTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGACA CTGTGCCCGGCTTTAGTAGGTGCCTCGGACACTGTGCCCGGCTTTAGTAG GTGCCG	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18984.hp2 NA18747.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0002g0032 a0001c0001t0001g0007 a0001c0001t0002g0032	2	150	0.0133	-155	c.531 others(19): Show c.531+75042_531+75196del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SOX11_chr2_5687384_5706385	5706038	CGGGGTGG others(148): Show CGGGGTGGAGGAGCTGGGAGGCCAGGGTGGAGGAGTTGAGGAGGCTGGGG TAGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGAGG AGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGACTGGGGTAGAGGAACAGG TAGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	434	0.0023	-155	c.11 others(13): Show c.11992_*12146del	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4654		chr2	TogoVar
SPIRE2_chr16_89823475_89876319	89852172	CTCCCCAC others(148): Show CTCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCC CCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCAT GGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCCCATCTTC CATCCT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0314 a0006c0010t0001g0314	1	356	0.0028	-155	c.645 others(17): Show c.645+1513_645+1667del	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14			chr16	TogoVar
SPPL2B_chr19_2323684_2360095	2335241	CCTTTCCC others(148): Show CCTTTCCCACTGCATCCTTCAGGCCCCGCCTCCTTTCCCACTGCATCCTT CAGGCCCCGCCTCCTTTCCCACTGCATCCTTCAGGCCCCGCCTCATTTCC CACTGCATCCTTCAGGCCCCGCCTCCTTTCTCACTGCATCCTTCAGGCCC CGCCTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0009 a0002c0011t0009	a0002c0011t0009g0165 a0002c0011t0009g0165	1	414	0.0024	-155	c.186 others(15): Show c.186+535_186+689del	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTSSA_chr14_34427788_34467240	34443200	TGTGTGTG others(148): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGAGATGGA GTTTTCCTCTCATTACCCAGCTGGAGTGCAATGGCACAGTCTTAGCTCAC TGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCTAGGGGAGG GTGTGA	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	344	0.0029	-155	c.113 others(17): Show c.113-8051_113-7897del	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443351	TGTGAGTG others(148): Show TGTGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGA GATGGAGTTTTCCTCTCATTACCCAGCTGGAGTGCAATGGCACAGTCTTA GCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCTAG GGGAGG	T T	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	344	0.0029	-155	c.113 others(17): Show c.113-8202_113-8048del	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443355	AGTGTGTG others(148): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGAGATG GAGTTTTCCTCTCATTACCCAGCTGGAGTGCAATGGCACAGTCTTAGCTC ACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCTAGGGGA GGGTGT	A A	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	344	0.0029	-155	c.113 others(17): Show c.113-8206_113-8052del	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SRBD1_chr2_45383680_45616267	45414896	CACACACA others(148): Show CACACACATATAGTGTGTATATAGTATGTACACACACAGTGTTATATAGT ATGTACATACACACACATATAGTGTGTATATAGTATGTATATACACACAT ATAGTGTGTATATAGTATGTATATACACACATATAGTGTGTATATAGTAT GTATAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	358	0.0028	-155	c.233 others(19): Show c.2334-1758_2334-1604del	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45414928	CACACAGT others(148): Show CACACAGTGTTATATAGTATGTACATACACACACATATAGTGTGTATATA GTATGTATATACACACATATAGTGTGTATATAGTATGTATATACACACAT ATAGTGTGTATATAGTATGTATATACACACATATAGTGTGTATATAGTAT GTATAT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03579.hp1 NA18906.hp2 HG03471.hp2 HG03579.hp1 NA18906.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0001 a0001c0001t0001 a0005c0007t0001	a0001c0001t0001g0072 a0001c0001t0001g0073 a0005c0007t0001g0128 a0001c0001t0001g0072 a0001c0001t0001g0073 a0005c0007t0001g0128	3	358	0.0084	-155	c.233 others(19): Show c.2334-1790_2334-1636del	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SSH2_chr17_29620938_29935228	29895740	ATATAAAA others(148): Show ATATAAAATGTATTTTATATACACATTTCATGTATAAAATGTATTTTATA TACACATTTCATGTATAAAATGTATTTTATATACACATTTCATGTATAAA ATGTATTTTATATACACATTTCATGTATAAAATGTATTTTATATACACAT TTCATG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0117 a0001c0003t0010g0117	1	232	0.0043	-155	c.63+ others(17): Show c.63+34043_63+34197del	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar

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